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1.
Eur J Med Genet ; 63(4): 103824, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31830537

RESUMO

Complete or partial tetrasomy 21 has been reported only in rare cases. We report a Japanese female patient with tetrasomy 21 due to an extra chromosome derived from chromosome 21 (Chr21). The patient had severe psychomotor retardation without Down syndrome (DS) phenotype; she showed short stature, microcephaly, round face, cleft lip and palate, and other dysmorphic features. The chromosome analyses for the patient detected an extra dicentric Chr21 consisting of two partial Chr21 copies fused together within their long arms. Her karyotype was revealed to be 47,XX,+dic(21;21). Allelic ratios of heterozygous SNPs observed in the patient indicated the maternal origin of the extra Chr21. Copy number and structural variant analyses using whole genome sequencing data indicated that the distal breakpoint of the dicentric Chr21 was located within 21q21.3 and that the extra Chr21 did not simply consist of inverted duplications of the pter→q21.3 region, but likely contained multiple partial deletions, duplications, and inversions within it. Fluorescence in situ hybridization results were consistent with the karyotype and genomic analyses. The patient's lack of DS phenotype turned out to be due to the normal copy number of the DS critical region (21q22.13-22.3). A possible molecular mechanism leading to the complex genomic rearrangements in the tetrasomic region consists mainly of breakage-fusion-bridge cycles with an unequal crossing-over event.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 21/genética , Deficiência Intelectual/genética , Tetrassomia , Criança , Fenda Labial/genética , Fissura Palatina/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Microcefalia/genética , Fenótipo , Sequenciamento Completo do Genoma
2.
Eur J Med Genet ; 63(1): 103634, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30797979

RESUMO

OBJECTIVE: Our objective was to review the phenotypic and genetic characteristics of tetrasomy 5p from the fetal period until adulthood including prenatal diagnostic evaluations. BACKGROUND: Tetrasomy 5p is a rare chromosomal abnormality. Of the 14 reports, most document mosaic tetrasomy 5p resulting from a supernumerary marker chromosome or isochromosome. There is a wide range of phenotypic manifestations with severity related to more proximal breakpoints and the degree of mosaicism. DESIGN: We conducted a systematic review using Scopus, PubMed Central® and Ovid MEDLINE® from inception through July 1, 2018 for all articles describing tetrasomy 5p. All articles describing the syndrome of tetrasomy 5p were included. RESULTS: Of the 15 included cases, 13 exhibited mosaic tetrasomy and two had complete tetrasomy identified by amniocentesis. The most common features include seizures (8/11 live births, 73%), hypotonia (7/11 live births, 64%), developmental delay (7/9 cases that reached childhood, 78%), abnormal external ears (6/11 live births, 55%), short stature (6/11 live births, 55%), ventriculomegaly (5/11 live births, 45.5%) and congenital heart defect (6/15 cases, 40%). The clinical phenotype ranged in severity from mild with no defining characteristics to severe with seizures, developmental delay, and multiple congenital anomalies, resulting in early death. Of these 15 cases, only 6 were diagnosed prenatally by prenatal genetic testing (40%) with prenatal ultrasound identifying abnormalities in 4/6 (67%). Confined placental mosaicism (CPM) was diagnosed in six additional cases due to discordance between CVS and amniocentesis results. Four of the five live births returned for evaluation and each showed normal development. CONCLUSIONS: Fourteen out of 15 (93%) cases of tetrasomy 5p were associated with an abnormal phenotype. Once a diagnosis is made prenatally, a detailed anatomy ultrasound and fetal echocardiogram must be performed to further characterize any structural abnormalities of the fetus and potentially estimate the clinical severity. Caution should be exercised when prenatal diagnosis of mosaic tetrasomy 5p is found by chorionic villus sampling. CVS alone is insufficient to diagnose tetrasomy 5p and needs to be confirmed with amniocentesis. Our review seeks to inform clinicians on the current literature regarding tetrasomy 5p so that they may better counsel patients when this syndrome is diagnosed.


Assuntos
Anormalidades Múltiplas/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Mosaicismo , Tetrassomia/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Amniocentese/métodos , Criança , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 5/genética , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/patologia , Feminino , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Isocromossomos/genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Tetrassomia/genética , Tetrassomia/patologia
3.
Mol Genet Genomic Med ; 7(11): e00895, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31493343

RESUMO

BACKGROUND: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature. METHODS: Prenatal and fetal pathological examinations, cytogenetic and molecular analyses were performed to characterize fetal features with tetrasomy 21. RESULTS: Prenatal ultrasound examination revealed an isolated complete atrioventricular septal defect with normal karyotype on amniotic fluid. After termination of pregnancy, clinical examination of the fetus evoked trisomy 21 or Down syndrome. Chromosomal microarray analysis and FISH on lung tissue showed a mosaicism with four copies of chromosome 21 (tetrasomy 21). CONCLUSION: Our observation and the review of the literature reported the possibility of very weak mosaicism and disease-causing confined tissue-specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false-negative test due to chromosomal mosaicism (very weak percentage, different tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This study highlights the limits of microarray as the unique diagnostic approach in case of weak mosaic and French cytogenetics guidelines recommend to check anomalies seen in microarray by another technique on the same tissue.


Assuntos
Aneuploidia , Cromossomos Humanos Par 21/genética , Defeitos dos Septos Cardíacos/diagnóstico , Mosaicismo , Diagnóstico Pré-Natal/métodos , Tetrassomia , Adulto , Amniocentese , Feminino , Defeitos dos Septos Cardíacos/genética , Humanos , Gravidez
4.
Mol Genet Genomic Med ; 7(10): e00939, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31454185

RESUMO

BACKGROUND: Pallister-Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose through peripheral blood sample by conventional cytogenetic methods and fluorescence in situ hybridization. METHODS: Here, we report five patients with PKS. We delineate their clinical phenotypes and we compare them with previously published cases. We used array Comparative Genomic Hybridization (aCGH) with DNA extracted from peripheral blood samples. The five patients have also been tested by conventional cytogenetics techniques. RESULTS: Four out of five patients showed tetrasomy 12p by aCGH. Three of the four patients have typical i(12p) and one of the four demonstrated atypical tetrasomy 12p. The percentage of mosaicism was as low as 20%. Our cohort exhibited the typical PKS phenotypes. CONCLUSION: Our results demonstrate the efficacy of aCGH for the diagnosis of PKS from DNA extracted from lymphocytes. Thus, for patients suspected of PKS, we recommend performing aCGH on lymphocytes at an early age before  proceeding to skin biopsy. aCGH on peripheral blood samples is sensitive in detecting low level of mosaicism and it is less invasive method than skin biopsy. We reviewed also the literature concerning the previously published PKS patients diagnosed by aCGH.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Masculino , Fenótipo , Tetrassomia
5.
Cytogenet Genome Res ; 158(4): 199-204, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31315112

RESUMO

Here, we report a molecular characterization of a small supernumerary marker chromosome (sSMC) derived from the most proximal region of 13q present in a fetus with coarctation of the aorta at ultrasound examination during prenatal diagnosis. Cultured umbilical cord blood cells showed a de novo extra ring-shaped sSMC in 76% of the cells using a standard banding technique. SNP array revealed a tetrasomy of about 28.4 Mb in the long arm of chromosome 13 from band 13q11 to 13q14.11 in the fetus's cells. Metaphase/interphase FISH using specific probes located at 13q11, 13q12.11, and 13q14.11, respectively, demonstrated that the supernumerary ring chromosome was derived from an inverted duplication of the region 13q11q14.11 with a conventional centromere. To the best of our knowledge, this is the first time that an inverted duplication of the most proximal region 13q11q14.11 in a ring chromosome is characterized. The findings we presented here deepen our understanding of the clinical consequences of tetrasomy in this region and may be of help for further studies of critical regions in chromosome 13.


Assuntos
Coartação Aórtica/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 13/genética , Doenças Fetais/genética , Diagnóstico Pré-Natal , Cromossomos em Anel , Tetrassomia/genética , Adulto , Centrômero/genética , Bandeamento Cromossômico , Feminino , Doenças Fetais/diagnóstico , Feto/metabolismo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único/genética , Gravidez
7.
J Genet ; 982019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30945692

RESUMO

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and next generation sequencing (NGS) were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN, meanwhile NGS also revealed a partial tetrasomy of 27.84Mb from 4q26-q31.21 (117,385,735-145,225,759), and G-banding analysis excluded the couple to have carried the 4q26-q31.21 duplication. We have identified a de novo mosaic small supernumerary marker chromosomes (sSMC) derived from 4q26-q31.21 in a foetus with hemivertebra, polydactyly, abnormal ears, and heart and ventricular septal defect.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 4/genética , Feto/patologia , Marcadores Genéticos , Diagnóstico Pré-Natal , Tetrassomia , Adulto , Análise Citogenética , Feminino , Feto/metabolismo , Humanos , Masculino , Mosaicismo , Gravidez
8.
G3 (Bethesda) ; 9(6): 2017-2028, 2019 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-31010824

RESUMO

Whole-genome duplications (WGDs) have occurred repeatedly and broadly throughout the evolutionary history of eukaryotes. However, the effects of WGD on genome function and evolution remain unclear. The salmonid WGD that occurred approximately 88 million years ago presents an excellent opportunity for studying the effects of WGD as ∼10-15% of each salmonid genome still exhibits tetrasomic inheritance. Herein, we utilized the rainbow trout (Oncorhynchus mykiss) genome assembly and brain transcriptome data to examine the fate of gene pairs (ohnologs) following the salmonid whole-genome duplication. We find higher sequence identity between ohnologs located within known tetrasomic regions than between ohnologs found in disomic regions, and that tetrasomically inherited ohnologs showed greater similarity in patterns of gene expression and per ohnolog were lower expressed, than disomically inherited ohnologs. Enrichment testing for Gene Ontology terms identified 49 over-represented terms in tetrasomically inherited ohnologs compared to disomic ohnologs. However, why these ohnologs are retained as tetrasomic is difficult to answer. It could be that we have identified salmonid specific "dangerous duplicates", that is, genes that cannot take on new roles following WGD. Alternatively, there may be adaptive advantages for retaining genes as functional duplicates in tetrasomic regions, as presumably, movement of these genes into disomic regions would affect both their sequence identity and their gene expression patterns.


Assuntos
Evolução Molecular , Duplicação Gênica , Genoma , Genômica , Salmonidae/genética , Tetrassomia , Animais , Biologia Computacional/métodos , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Ontologia Genética , Genômica/métodos , Padrões de Herança , Masculino
11.
Mol Genet Genomic Med ; 6(3): 370-381, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29573570

RESUMO

BACKGROUND: Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations with the current approaches of obtaining a karyotype using traditional cytogenetics, fluorescence in situ hybridization with a limited number of probes, and chromosomal microarray. These include culture failure, incomplete results, lower sensitivity, and longer reporting time. METHODS: To overcome current limitations, a novel molecular assay is developed with a Standard Resolution Interphase Chromosome Profiling probe set which is a variation of the recently developed High Resolution probe set. It generates a molecular karyotype that can detect all major changes commonly associated with pregnancy loss. Initial familiarization of signal patterns from the probe set was used, followed by validation of the method using 83 samples from miscarriages in a blind study from three different laboratories. Finally, the clinical utility of the method was tested on 291 clinical samples in two commercial reference laboratory settings on two different continents. RESULTS: The new molecular approach not only identified all the chromosome changes observed by current methods, but also significantly improved abnormality detection by characterizing derivative chromosomes and finding subtle subtelomeric rearrangements, balanced and unbalanced. All Robertsonian translocations were also detected. The abnormality rate was 54% on clinical samples from commercial laboratory 1 and 63% from laboratory 2. CONCLUSION: The attributes of this method make it an ideal choice for the genetic workup of miscarriages, namely (1) near 100% successful results, (2) greater sensitivity than conventional chromosome analysis or FISH panels, (3) rapid reporting time, and (4) favorable comparisons with chromosomal microarray.


Assuntos
Análise Citogenética/métodos , Citogenética/métodos , Aborto Espontâneo/genética , Aberrações Cromossômicas , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Interfase/genética , Cariótipo , Cariotipagem/métodos , Monossomia/diagnóstico , Gravidez , Diagnóstico Pré-Natal/métodos , Sensibilidade e Especificidade , Tetrassomia/diagnóstico , Trissomia/diagnóstico
12.
Hum Pathol ; 76: 110-116, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29217426

RESUMO

Composite lymphoma of T-/B-cell type is rare, and follicular lymphoma composite with peripheral T-cell lymphoma (PTCL) has not previously been reported. We report such a case with both neoplastic components displaying a unique zone of distribution. A 75-year-old male patient presented with generalized lymphadenopathy. Sections of axillary lymph node demonstrated potentially 2 clonal processes, PTCL with aberrant CD20 expression and follicular lymphoma. Interestingly, the 2 neoplastic components were confined to their respective classic distribution zones, with PTCL occupying the interfollicular areas and follicular lymphoma residing in follicles. Both populations were detected by flow cytometry, but their immunophenotypes were insufficient to define clonality. Nonetheless, biclonality was demonstrated by lymphoid receptor gene rearrangement analyses. Molecular cytogenetics showed IGH/BCL2 fusion in the follicular lymphoma and amplification of IGH gene or trisomy/tetrasomy 14 in the PTCL. The current case underscores the complexity of composite lymphoma and advocates a multimodal approach to establishing the diagnosis.


Assuntos
Linfoma Composto , Linfoma de Células B , Linfoma Folicular , Linfoma de Células T Periférico , Idoso , Antígenos CD20/análise , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Linfoma Composto/genética , Linfoma Composto/imunologia , Linfoma Composto/patologia , Linfoma Composto/terapia , Amplificação de Genes , Fusão Gênica , Genes de Cadeia Pesada de Imunoglobulina , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Linfoma de Células B/genética , Linfoma de Células B/imunologia , Linfoma de Células B/patologia , Linfoma de Células B/terapia , Linfoma Folicular/genética , Linfoma Folicular/imunologia , Linfoma Folicular/patologia , Linfoma Folicular/terapia , Linfoma de Células T Periférico/genética , Linfoma de Células T Periférico/imunologia , Linfoma de Células T Periférico/patologia , Linfoma de Células T Periférico/terapia , Masculino , Proteínas Proto-Oncogênicas c-bcl-2/genética , Tetrassomia , Trissomia
13.
Mol Genet Genomic Med ; 6(1): 92-98, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29222831

RESUMO

BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS. RESULTS: We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS. CONCLUSION: Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.


Assuntos
Encéfalo/fisiopatologia , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/fisiopatologia , Anormalidades Múltiplas/genética , Encéfalo/anatomia & histologia , Encéfalo/fisiologia , Pré-Escolar , Cromossomos Humanos Par 12/genética , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Malformações do Desenvolvimento Cortical/genética , Megalencefalia/genética , Mosaicismo , Tetrassomia/genética
14.
Acta pediatr. esp ; 75(5/6): e89-e91, mayo-jun. 2017. ilus
Artigo em Espanhol | IBECS | ID: ibc-163984

RESUMO

El síndrome de Pallister-Killian (SPK) es una alteración genética rara, no hereditaria y esporádica, que se produce por un mosaicismo para la tetrasomía del brazo corto del cromosoma 12. Se manifiesta con un fenotipo típico, que se caracteriza por un aspecto facial tosco, el labio de Pallister, una nariz corta con narinas antevertidas, un puente nasal plano, hipertelorismo, orejas de implantación baja y malformadas, alopecia en la región bitemporal, anomalías en las extremidades, pigmentación irregular con manchas acrómicas e hipercrómicas y uñas hipoplásicas. Se asocia frecuentemente a hernia diafragmática, alteraciones cardiovasculares y malformaciones anorrectales. Presentamos el primer caso descrito en la literatura de SPK que se manifiesta con un cuadro de obstrucción intestinal (AU)


Pallister-Killian syndrome (PKS) is a rare, non-hereditary, sporadic mosaicism genetic disorder, caused by tetrasomy of the short arm of chromosome 12. It is expressed with a typical phenotype characterized by coarse face with broad, Pallister lip, short nose with anteverted nostrils, flat nasal bridge, hypertelorism, low and malformed ears implantation, bitemporal alopecia, limb abnormalities, irregular pigmentation with achromic and hyperchromic spots and hypoplasic nails. Frequently associated with diaphragmatic hernia, cardiovascular and anorectal malformations. We report the first case in the literature of PKS with associated symptoms of functional intestinal obstruction (AU)


Assuntos
Humanos , Masculino , Lactente , Obstrução Intestinal/etiologia , Tetrassomia/genética , Transtornos Cromossômicos/diagnóstico , Mosaicismo , Anormalidades Múltiplas/diagnóstico , Recém-Nascido Prematuro
15.
Am J Med Genet A ; 173(4): 1056-1060, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28328127

RESUMO

Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including telecanthus, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay. Microarray analysis showed a copy number gain of a 22.37 Mb region of chromosome 11 between bands 11q14.1 and 11q22.1. This region contains 95 genes and seven microRNAs, none of which have been implicated in a disease resulting from increased gene dosage. FISH analysis using a probe targeted to the middle of the segment of the copy number gain yielded a pattern indicative of a tetrasomy via an intrachromosomal triplication, with three signals on the long arm of one homologue of chromosome 11 and the fourth on the other homologue. Subsequent FISH analysis showed that the middle triplicated fragment was positioned in an inverted orientation relative to the outer fragments. To investigate the mechanism by which the intrachromosomal triplication occurred, SNP microarray analysis was performed. These results were consistent with the presence of multiple haplotypes in the tetrasomic region and suggest that the intrachromosomal triplication in our patient arose in one parent during meiosis. © 2017 Wiley Periodicals, Inc.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 11/química , Anormalidades Craniofaciais/genética , Deficiência Intelectual/genética , Prognatismo/genética , Tetrassomia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/patologia , Feminino , Dosagem de Genes , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Cariotipagem , Análise em Microsséries , Análise de Sequência com Séries de Oligonucleotídeos , Prognatismo/diagnóstico , Prognatismo/patologia
16.
BMC Med Genet ; 18(1): 9, 2017 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-28137251

RESUMO

BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. CASE PRESENTATION: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). CONCLUSION: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training.


Assuntos
Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/psicologia , Cromossomos Humanos Y/genética , Adulto , Humanos , Masculino , Fenótipo , Tetrassomia , Síndrome de Turner
17.
Mol Plant ; 10(2): 309-322, 2017 02 13.
Artigo em Inglês | MEDLINE | ID: mdl-27993622

RESUMO

Peanut (Arachis hypogaea; 2n = 4x = 40) is a nutritious food and a good source of vitamins, minerals, and healthy fats. Expansion of genetic and genomic resources for genetic enhancement of cultivated peanut has gained momentum from the sequenced genomes of the diploid ancestors of cultivated peanut. To facilitate high-throughput genotyping of Arachis species, 20 genotypes were re-sequenced and genome-wide single nucleotide polymorphisms (SNPs) were selected to develop a large-scale SNP genotyping array. For flexibility in genotyping applications, SNPs polymorphic between tetraploid and diploid species were included for use in cultivated and interspecific populations. A set of 384 accessions was used to test the array resulting in 54 564 markers that produced high-quality polymorphic clusters between diploid species, 47 116 polymorphic markers between cultivated and interspecific hybrids, and 15 897 polymorphic markers within A. hypogaea germplasm. An additional 1193 markers were identified that illuminated genomic regions exhibiting tetrasomic recombination. Furthermore, a set of elite cultivars that make up the pedigree of US runner germplasm were genotyped and used to identify genomic regions that have undergone positive selection. These observations provide key insights on the inclusion of new genetic diversity in cultivated peanut and will inform the development of high-resolution mapping populations. Due to its efficiency, scope, and flexibility, the newly developed SNP array will be very useful for further genetic and breeding applications in Arachis.


Assuntos
Arachis/genética , Técnicas de Genotipagem , Polimorfismo de Nucleotídeo Único , Recombinação Genética , Tetrassomia , Marcadores Genéticos , Variação Genética , Genótipo , Haplótipos , Seleção Genética
18.
Scand J Gastroenterol ; 52(4): 377-381, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27908204

RESUMO

BACKGROUND: Cholangiocarcinoma (CCA) is a leading cause of death in patients with primary sclerosing cholangitis (PSC). Biliary polysomy detected by fluorescence in situ hybridization (FISH) helps to identify patients with early CCA, but not all PSC patients with polysomy develop CCA. Here, we examined the features and clinical outcomes of PSC patients with serial versus isolated polysomy. METHODS: All patients with PSC who underwent ≥1 endoscopic retrograde cholangiography (ERC) with FISH testing at Mayo Clinic, Rochester from 2008-2011 were identified. Patients diagnosed with CCA at the time of initial polysomy were excluded. Serial polysomy was defined as polysomy on ≥2 ERCs; isolated polysomy was defined as polysomy once followed by all nonpolysomy results. The primary outcome was the diagnosis of CCA. RESULTS: Twenty-seven patients with polysomy and ≥1 subsequent ERC with FISH were identified. Of these, 11 (40.7%) had serial polysomy and 16 (59.3%) had isolated polysomy. CCA was more likely to be diagnosed in patients with serial versus isolated polysomy (36.4% vs. 6.3%; p = .046). Overall, four patients (36.4%) with serial polysomy and three (18.8%) with isolated polysomy underwent liver transplantation (LT), with time to LT being significantly shorter for the former (14.0 vs. 65.4 months; p = .0003). CONCLUSIONS: Biliary polysomy reverted in ≥50% of patients with PSC; this group appears to be at decreased risk of CCA compared to those with serial polysomy. Nevertheless, both groups should be followed closely, and those with serial polysomy may benefit from early LT evaluation.


Assuntos
Neoplasias dos Ductos Biliares/diagnóstico , Ductos Biliares Intra-Hepáticos/patologia , Colangiocarcinoma/diagnóstico , Colangite Esclerosante/complicações , Colangite Esclerosante/patologia , Adulto , Aneuploidia , Neoplasias dos Ductos Biliares/genética , Colangiocarcinoma/genética , Colangiopancreatografia Retrógrada Endoscópica , Aberrações Cromossômicas , Feminino , Humanos , Hibridização in Situ Fluorescente , Transplante de Fígado/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tetrassomia , Trissomia , Estados Unidos
19.
Ann Lab Med ; 37(1): 66-70, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27834069

RESUMO

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.


Assuntos
Transtornos Cromossômicos/diagnóstico , Pré-Escolar , Cromossomos Humanos Par 12 , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização In Situ , Lactente , Masculino , Tetrassomia
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