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1.
Zhonghua Fu Chan Ke Za Zhi ; 55(2): 100-105, 2020 Feb 25.
Artigo em Chinês | MEDLINE | ID: mdl-32146738

RESUMO

Objective: To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening. Methods: After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations. Results: Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases. Conclusions: Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.


Assuntos
Aneuploidia , Ácidos Nucleicos Livres/sangue , Cromossomos Humanos X/genética , Variações do Número de Cópias de DNA/genética , Testes para Triagem do Soro Materno/métodos , Diagnóstico Pré-Natal/métodos , Transtornos dos Cromossomos Sexuais/genética , Transtornos Cromossômicos , Feminino , Humanos , Gravidez
2.
Medicine (Baltimore) ; 98(39): e17342, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574874

RESUMO

RATIONALE: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations. PATIENT CONCERNS: We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes. DIAGNOSIS: He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies. INTERVENTIONS: After the initial diagnosis, the patient received intensive insulin therapy to correct hyperglycemia, and he received calcium and vitamin D supplements. The patient also received testosterone and thyroid hormone replacement therapy for primary hypogonadism. OUTCOMES: The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled. LESSONS: The combination of cleft palate, hypothyroidism, cataracts, diabetes, and osteoporosis in 49,XXXXY syndrome has not yet been reported. Early treatment and appropriate care can significantly improve the patient's quality of life and prevent serious consequences.


Assuntos
Catarata/congênito , Fissura Palatina/genética , Hipotireoidismo Congênito/genética , Diabetes Mellitus/congênito , Transtornos dos Cromossomos Sexuais/complicações , Anormalidades Múltiplas/genética , Aneuploidia , Cromossomos Humanos X/genética , Humanos , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Adulto Jovem
3.
Dev Neurosci ; 41(1-2): 123-131, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31280271

RESUMO

47,XYY syndrome (XYY) is one of the common forms of sex chromosome aneuploidy in males. XYY males tend to have tall stature, early speech, motor delays, social and behavioral challenges, and a high rate of language impairment. Recent studies indicate that 20-40% of males with XYY meet diagnostic criteria for autism spectrum disorder (ASD; the rate in the general population is 1-2%). Although many studies have examined the neural correlates of language impairment in ASD, few similar studies have been conducted on individuals with XYY. Studies using magnetoencephalography (MEG) in idiopathic ASD (ASD-I) have demonstrated delayed neurophysiological responses to changes in the auditory stream, revealed in the mismatch negativity or its magnetic counterpart, the mismatch field (MMF). This study investigated whether similar findings are observed in XYY-associated ASD and whether delayed processing is also present in individuals with XYY without ASD. MEG measured MMFs arising from the left and the right superior temporal gyrus during an auditory oddball paradigm with vowel stimuli (/a/ and /u/) in children/adolescents with XYY both with and without a diagnosis of ASD, as well as in those with ASD-I and in typically developing controls (TD). Ninety male participants (6-17 years old) were included in the final analyses (TD, n = 38, 11.50 ± 2.88 years; ASD-I, n = 21, 13.83 ± 3.25 years; XYY without ASD, n = 15, 12.65 ± 3.91 years; XYY with ASD, n = 16, 12.62 ± 3.19 years). The groups did not differ significantly in age (p > 0.05). There was a main effect of group on MMF latency (p < 0.001). Delayed MMF latencies were found in participants with XYY both with and without an ASD diagnosis, as well as in the ASD-I group compared to the TD group (ps < 0.001). Furthermore, participants with XYY (with and without ASD) showed a longer MMF latency than the ASD-I group (ps < 0.001). There was, however, no significant difference in MMF latency between individuals with XYY with ASD and those with XYY without ASD. Delayed MMF latencies were associated with severity of language impairment. Our findings suggest that auditory MMF latency delays are pronounced in this specific Y chromosome aneuploidy disorder, both with and without an ASD diagnosis, and thus may implicate the genes of the Y chromosome in mediating atypical MMF activity.


Assuntos
Potenciais Evocados Auditivos/fisiologia , Transtornos dos Cromossomos Sexuais/fisiopatologia , Cariótipo XYY/fisiopatologia , Estimulação Acústica , Adolescente , Transtorno do Espectro Autista/etiologia , Criança , Humanos , Magnetoencefalografia , Masculino , Transtornos dos Cromossomos Sexuais/complicações
4.
Cogn Behav Neurol ; 32(2): 87-94, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31205122

RESUMO

OBJECTIVE: To describe (a) the observed cognitive, emotional, and behavioral phenotype in a cohort of male children with 47,XYY syndrome and (b) stress levels in their parents. METHODS: We conducted a cross-sectional observational study of 11 boys diagnosed with 47,XYY syndrome and compared them with 11 age-matched boys with normal karyotype (46,XY). The participants performed standardized assessments of cognitive function, emotional state, and behavioral features; the parents completed a questionnaire evaluating parental stress. All data were analyzed using parametric and nonparametric statistical methods. RESULTS: All of the boys exhibited a normal cognitive profile. However, emotional-behavioral profiling revealed that internalizing and externalizing problems were more prevalent in the 47,XYY group. In addition, the stress levels of the parents of the 47,XYY group were reportedly higher than those of the parents of the 46,XY group. We also found that the time of the diagnosis had an effect on the mothers' stress levels; that is, postnatal fetal 47,XYY diagnosis was associated with higher maternal stress, whereas prenatal fetal 47,XYY diagnosis was not. CONCLUSIONS: Generally, 47,XYY syndrome is associated with certain cognitive, emotional, and behavioral features. High stress levels have been reported by the mothers of 47,XYY boys who had been diagnosed postnatally because of unexpected developmental delay and/or learning difficulties. The present study highlights the need to better define the neuropsychiatric phenotype of 47,XYY children; namely, the effect of the chromosomal abnormality on their cognitive function and emotional-behavioral (internalizing and externalizing) features. This study could improve prenatal counseling and pediatric surveillance.


Assuntos
Cognição/fisiologia , Emoções/fisiologia , Pais/psicologia , Transtornos dos Cromossomos Sexuais/psicologia , Estresse Psicológico/psicologia , Cariótipo XYY/psicologia , Adolescente , Criança , Comportamento Infantil , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Fenótipo , Gravidez , Transtornos dos Cromossomos Sexuais/diagnóstico , Estresse Psicológico/diagnóstico , Inquéritos e Questionários , Cariótipo XYY/diagnóstico
5.
J Gynecol Obstet Hum Reprod ; 48(10): 817-823, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31026518

RESUMO

OBJECTIVE: Premature ovarian insufficiency is a lack of ovarian functions in patients younger than 40 years old. Genetic causes leading to accelerated follicle depletion may result in premature ovarian insufficiency. We aimed to determine genetic etiology of nonsyndromic premature ovarian insufficiency cases from Turkey. MATERIALS AND METHODS: We analyzed 86 nonsyndromic premature ovarian insufficiency cases and 26 matched control female participants. Participants have been investigated in cytogenetic analysis followed by FMR1 repeat size expansions and search of variants for nine premature ovarian insufficiency-associated genes. RESULTS: Four cases had a structural cytogenetic abnormality. Two cases revealed with premutation size FMR1 triplet repeat expansion. Four cases carried variants in which two were very rare in FSHR and PDPK1, and three were novel in NR5A1, PDPK1, and POF1B genes. Six novel variants have been identified in NOBOX, NR5A1, POF1B, and PDPK1 in control population assigned to be benign alterations. CONCLUSION: Mosaicism of sex chromosomes was responsible in 4.6% and FMR1 premutation in 2.4% of premature ovarian insufficiency cases, while the association of premature ovarian insufficiency-related genes was found very subtle. Novel variants in NR5A1, PDPK1, and POF1B may necessitate further evaluation for their association with premature ovarian insufficiency via functional studies.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Mosaicismo , Insuficiência Ovariana Primária/genética , Proteínas Quinases Dependentes de 3-Fosfoinositídeo/genética , Adulto , Alelos , Estudos de Casos e Controles , Expansão das Repetições de DNA , Feminino , Humanos , Proteínas dos Microfilamentos/genética , Receptores do FSH/genética , Transtornos dos Cromossomos Sexuais/genética , Fator Esteroidogênico 1/genética , Turquia
6.
Neuroreport ; 30(7): 504-509, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30896674

RESUMO

47,XYY syndrome (XYY) is a male sex chromosome disorder where individuals have an X chromosome and two copies of the Y chromosome. XYY is associated with a physical phenotype and carries increased risk of neurodevelopmental disorders such as autism spectrum disorder (ASD). Latencies of auditory evoked responses measured by magnetoencephalography have shown atypical prolongations in several neuropsychiatric and genetic disorders; specifically, delayed auditory responses have been observed in ASD. In this study, we investigated the associations of genotype and clinical phenotype with auditory processing. Whole cortex magnetoencephalography recorded during a passive auditory paradigm (500 Hz tones) was used to assess the auditory evoked response in three groups of male children: idiopathic ASD, typically developing, and XYY boys. Response waveforms were computed for left and right auditory cortex and latencies of the ∼50 ms (M50) and ∼100 ms (M100) components were determined. M50 latencies were significantly delayed compared with typically developing controls in children with ASD in the right hemisphere only, and in children with XYY in the left hemisphere only, irrespective of whether they met diagnostic criteria for ASD. Findings on the later M100 component trended in the same directions but did not attain significance, due to increased variance. Replicating previous findings, decreased M50 and M100 latencies with age were observed bilaterally. Overall, while XYY shares an electrophysiological phenotype (delayed evoked response latency) with idiopathic ASD, the hemispheric differences warrant further investigation.


Assuntos
Potenciais Evocados Auditivos/fisiologia , Transtornos dos Cromossomos Sexuais/fisiopatologia , Cariótipo XYY/fisiopatologia , Adolescente , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/fisiopatologia , Criança , Humanos , Masculino , Transtornos dos Cromossomos Sexuais/complicações
7.
Sex Dev ; 13(2): 83-86, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30799415

RESUMO

Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss of SRY are extremely rare. This paper is the first report of a 47,XXY pregnant woman with a normal phenotype and may enrich our knowledge on 47,XXY individuals.


Assuntos
Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Transtornos dos Cromossomos Sexuais/genética , Proteína da Região Y Determinante do Sexo/genética , Adulto , Bandeamento Cromossômico , Deleção Cromossômica , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , Gravidez , Transtornos dos Cromossomos Sexuais/sangue , Proteína da Região Y Determinante do Sexo/metabolismo
8.
Orphanet J Rare Dis ; 14(1): 16, 2019 01 14.
Artigo em Inglês | MEDLINE | ID: mdl-30642344

RESUMO

BACKGROUND: Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). METHODS: This study is a nationwide cohort study in a public health care system. The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. We identified all individuals in the DCCR with a relevant SCA during 1961-2014; TS: n = 1156; KS: n = 1235; Triple X: n = 197; and Double Y: n = 287. From Statistics Denmark, which holds an extensive collection of data on the Danish population, complete data concerning dates of death and migrations in and out of Denmark were retrieved for all individuals. RESULTS: The prevalence among newborns was as follows: TS: 59 per 100,000 females; KS: 57 per 100,000 males; Triple X: 11 per 100,000 females; and Double Y: 18 per 100,000 males. Compared with the expected number among newborns, all TS, 38% of KS, 13% of Triple X, and 18% of Double Y did eventually receive a diagnosis. The incidence of TS with other karyotypes than 45,X (P < 0.0001), KS (P = 0.02), and Double Y (P = 0.03) increased during the study period whereas the incidence of 45,X TS decreased (P = 0.0006). The incidence of Triple X was stable (P = 0.22). CONCLUSIONS: The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.


Assuntos
Síndrome de Turner/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Estudos de Coortes , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Cariotipagem , Síndrome de Klinefelter/genética , Masculino , Pessoa de Meia-Idade , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Cariótipo XYY/genética , Adulto Jovem
9.
Curr Opin Psychiatry ; 32(2): 79-84, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30689602

RESUMO

PURPOSE OF REVIEW: About one in 650-1000 children is born with an extra X or Y chromosome, referred to as sex chromosome trisomies (SCTs). Studying SCTs may uncover unique insights in neurodevelopmental pathways underlying the risk for neurobehavioral problems and psychopathology. There is also a clinical need for more knowledge about the phenotype of SCT with the recent introduction of noninvasive prenatal screening. RECENT FINDINGS: The reviewed studies illustrate an increased vulnerability for psychopathology such as (symptoms of) autism spectrum disorder, attention-deficit/hyperactivity disorder, anxiety, depression and, to a lesser degree, psychotic disorders. Although traditionally the primary focus has been on language and learning problems, recent research suggests that impairments in executive functioning, social cognition and emotion regulation may also be key factors underlying the risk for neurobehavioral problems. SUMMARY: The research field of SCT is in need of a more longitudinal perspective to identify early markers of 'at risk' development, and to assess the effectiveness of early interventions. Neurocognitive markers that signal compromised neurodevelopment may prove to be helpful in this. Variability in the SCT phenotype provides a unique opportunity to identify not only genetic but also environmental factors that shape neurodevelopmental outcome, calling for studies focused on understanding individual differences.


Assuntos
Transtornos Neurocognitivos , Transtornos dos Cromossomos Sexuais , Cromossomos Sexuais , Trissomia , Intervenção Educacional Precoce , Função Executiva , Humanos , Transtornos Neurocognitivos/etiologia , Transtornos Neurocognitivos/psicologia , Transtornos Neurocognitivos/terapia , Psicopatologia , Autocontrole , Transtornos dos Cromossomos Sexuais/fisiopatologia , Transtornos dos Cromossomos Sexuais/psicologia , Comportamento Social
10.
Congenit Anom (Kyoto) ; 59(2): 43-46, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29732662

Assuntos
Aneuploidia , Síndrome de Klinefelter/mortalidade , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/mortalidade , Transtornos dos Cromossomos Sexuais/mortalidade , Síndrome da Trissomía do Cromossomo 18/mortalidade , Cariótipo XYY/mortalidade , Cromossomos Humanos X/química , Cromossomos Humanos X/genética , Cromossomos Humanos Y/química , Permeabilidade do Canal Arterial/genética , Permeabilidade do Canal Arterial/mortalidade , Permeabilidade do Canal Arterial/patologia , Feminino , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/mortalidade , Cardiopatias Congênitas/patologia , Comunicação Interatrial/genética , Comunicação Interatrial/mortalidade , Comunicação Interatrial/patologia , Comunicação Interventricular/genética , Comunicação Interventricular/mortalidade , Comunicação Interventricular/patologia , Humanos , Lactente , Recém-Nascido , Cariótipo , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/patologia , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Transtornos dos Cromossomos Sexuais/patologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia , Análise de Sobrevida , Trissomia/genética , Trissomia/patologia , Síndrome da Trissomía do Cromossomo 18/genética , Síndrome da Trissomía do Cromossomo 18/patologia , Cariótipo XYY/genética , Cariótipo XYY/patologia
11.
Neuropsychopharmacology ; 44(1): 9-21, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30127341

RESUMO

The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is challenging due to the complex interplay of diverse biological, psychological, and social factors. Males are more susceptible to neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and attention-deficit activity disorder. Conversely, after puberty, females are more prone to major depressive disorder and anxiety disorders compared to males. One major biological factor contributing to sex differences is the sex chromosomes. First, the X and Y chromosomes have unique and specific genetic effects as well as downstream gonadal effects. Second, males have one X chromosome and one Y chromosome, while females have two X chromosomes. Thus, sex chromosome constitution also differs between the sexes. Due to this complexity, determining genetic and downstream biological influences on sexual dimorphism in humans is challenging. Sex chromosome aneuploidies, such as Turner syndrome (X0) and Klinefelter syndrome (XXY), are common genetic conditions in humans. The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention-deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.


Assuntos
Síndrome de Klinefelter/genética , Transtornos Mentais/genética , Caracteres Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos dos Cromossomos Sexuais/genética , Cromossomos Sexuais , Trissomia/genética , Síndrome de Turner/genética , Cariótipo XYY/genética , Cromossomos Humanos X/genética , Feminino , Humanos , Síndrome de Klinefelter/psicologia , Masculino , Transtornos Mentais/psicologia , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/psicologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/psicologia , Síndrome de Turner/psicologia , Cariótipo XYY/psicologia
13.
J Neurodev Disord ; 10(1): 30, 2018 10 22.
Artigo em Inglês | MEDLINE | ID: mdl-30348076

RESUMO

BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls."


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtornos dos Cromossomos Sexuais/diagnóstico , Cariótipo XYY/diagnóstico , Adolescente , Adulto , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Masculino , Testes Neuropsicológicos , Fenótipo , Transtornos dos Cromossomos Sexuais/complicações , Adulto Jovem
14.
Eur J Endocrinol ; 179(3): 181-190, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29973376

RESUMO

OBJECTIVE: Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. METHODS: Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France. RESULTS: Twenty patients had a prenatal diagnosis, whereas 20 patients had a postnatal diagnosis, mainly for short stature. Most patients had stunted growth, with abnormal growth spurt during puberty and a mean adult height of 158 ± 7.6 cm, i.e. -2.3 DS with correction for target height. Seventy percent of patients presented Turner-like syndrome features including cardiac (6/23 patients investigated) and renal malformations (3/19 patients investigated). Twenty-two patients had minor abnormalities of external genitalia. One patient developed a testicular embryonic carcinoma, suggesting evidence of partial gonadal dysgenesis. Moreover, puberty occurred spontaneously in 93% of patients but 71% (n = 5) of those evaluated at the end of puberty presented signs of declined Sertoli cell function (low inhibin B levels and increased FSH levels). CONCLUSION: This study emphasizes the need to identify and follow-up 45,X/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies. Currently, most patients are diagnosed in adulthood with azoospermia, consistent with our observations of decreased testicular function at the end of puberty. Early management of these patients may lead to fertility preservation strategies.


Assuntos
Cromossomos Humanos X , Transtorno 46,XY do Desenvolvimento Sexual/patologia , Genitália/anormalidades , Mosaicismo , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/patologia , Adulto , Azoospermia/diagnóstico , Azoospermia/genética , Estatura , Criança , Feminino , Seguimentos , França , Genitália/crescimento & desenvolvimento , Genitália/patologia , Transtornos do Crescimento/genética , Humanos , Recém-Nascido , Cariotipagem , Estudos Longitudinais , Masculino , Monossomia , Fenótipo , Gravidez , Diagnóstico Pré-Natal , Puberdade , Estudos Retrospectivos
15.
Chin Med J (Engl) ; 131(15): 1808-1812, 2018 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-30058577

RESUMO

Background: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. Methods: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5. Results: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions: Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.


Assuntos
Hibridização in Situ Fluorescente , Infertilidade Masculina/genética , Diagnóstico Pré-Implantação , Transtornos dos Cromossomos Sexuais/diagnóstico , Cariótipo XYY/diagnóstico , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Transtornos dos Cromossomos Sexuais/genética , Cariótipo XYY/genética
16.
Cytogenet Genome Res ; 154(3): 122-125, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29627832

RESUMO

Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Y , Hipospadia/complicações , Transtornos dos Cromossomos Sexuais/genética , Pré-Escolar , Humanos , Cariótipo , Masculino , Mosaicismo , Transtornos dos Cromossomos Sexuais/complicações
18.
Arch Soc Esp Oftalmol ; 93(6): 303-306, 2018 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29397244

RESUMO

CASE REPORT: The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. DISCUSSION: Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual. Evaluation of patients with tall stature and behavioural problems should include a chromosomal analysis in order to determine the aetiology.


Assuntos
Catarata/etiologia , Transtornos dos Cromossomos Sexuais/complicações , Cariótipo Anormal , Anormalidades Múltiplas/genética , Aborto Habitual/genética , Adolescente , Catarata/congênito , Feminino , Humanos , Masculino , Miopia/etiologia , Linhagem , Fenótipo , Gravidez , Cariótipo XYY
19.
Am J Obstet Gynecol ; 219(3): 242-254, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29462630

RESUMO

Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in 1 fetus, or dizygotic twins forming a monochorionic placenta; (2) separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) false-negative and false-positive λ sign can arise for various reasons, and in partial monochorionic/dichorionic placentas both T and λ sign may co-exist; (4) intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; and (5) errors in ascertaining amnionicity by the visualization of thin intertwin amniotic membranes and the number of yolk sacs. The ultrasound techniques to reduce inaccuracy in prenatal determination of chorioamnionicity and the use of single nucleotide polymorphisms based on noninvasive prenatal test to determine zygosity are also reviewed.


Assuntos
Âmnio/diagnóstico por imagem , Córion/diagnóstico por imagem , Placenta/diagnóstico por imagem , Gravidez de Gêmeos , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Aborto Eugênico , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Ginatresia/diagnóstico por imagem , Humanos , Imageamento Tridimensional , Gravidez , Gravidez Múltipla , Técnicas de Reprodução Assistida , Transtornos dos Cromossomos Sexuais , Ultrassonografia Pré-Natal , Anormalidades Urogenitais , Saco Vitelino/diagnóstico por imagem
20.
Retin Cases Brief Rep ; 12(1): 39-41, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27617393

RESUMO

PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure. CONCLUSION: XXXXY syndrome, like the related condition of Klinefelter syndrome, can manifest with ocular abnormalities. In the present case, the dural ectasia may have facilitated access of cerebrospinal fluid through anomalous optic nerves, resulting in neurosensory detachment.


Assuntos
Doenças do Sistema Nervoso Central/congênito , Dura-Máter/patologia , Macula Lutea/patologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Descolamento Retiniano/etiologia , Transtornos dos Cromossomos Sexuais/genética , Anormalidades Múltiplas , Aneuploidia , Doenças do Sistema Nervoso Central/diagnóstico , Pré-Escolar , Cromossomos Humanos X/genética , Diagnóstico Diferencial , Dilatação Patológica , Angiofluoresceinografia , Fundo de Olho , Testes Genéticos , Humanos , Ventrículos Laterais/patologia , Masculino , Doenças do Nervo Óptico/diagnóstico , Descolamento Retiniano/diagnóstico , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/diagnóstico , Tomografia de Coerência Óptica
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