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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(9): 1110-1116, 2024 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-39217492

RESUMO

OBJECTIVE: To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes. METHODS: Two patients treated at the Children's Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES). RESULTS: Child 1 had mainly manifested developmental delay, white matter hypoplasia, type 1 diabetes mellitus, and micropenis. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.21q22.1)[40]/46,XY[7], and CNV-seq results showed that he has a 14.86 Mb deletion at 18p11.21p11.32 and a 14.02 Mb deletion at 18q22.1q23. Child 2 had peculiar facial features, delayed white matter myelination, developmental delay, atrial septal defect, severe sensorineural deafness, and congenital laryngeal stridor. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.2q23). CNV-seq result proved that he had a 14.86 Mb deletion at 18p11-21p11.32 and a 20.74 Mb deletion at 18q21.32q23. WES has failed to detect single nucleotide variants (SNVs) in either child, but revealed a large segmental deletion at chromosome 18 in both of them. CONCLUSION: Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.


Assuntos
Cromossomos Humanos Par 18 , Cariotipagem , Cromossomos em Anel , Humanos , Masculino , Cromossomos Humanos Par 18/genética , Variações do Número de Cópias de DNA , Pré-Escolar , Testes Genéticos/métodos , Lactente , Criança , Feminino , Sequenciamento do Exoma , Deleção Cromossômica , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/diagnóstico , Fenótipo
3.
AJNR Am J Neuroradiol ; 45(10): 1578-1585, 2024 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-38816019

RESUMO

BACKGROUND AND PURPOSE: The abnormalities of the long arm of chromosome 18 (18q) constitute a complex spectrum. We aimed to systematically analyze their MR imaging features. We hypothesized that there would be variable but recognizable white matter and structural patterns in this cohort. MATERIALS AND METHODS: In this retrospective cohort study, we included pediatric patients with a proved abnormality of 18q between 2000-2022. An age- and sex-matched control cohort was also constructed. RESULTS: Thirty-six cases, median MR imaging age 19.6 months (4.3-59.3), satisfied our inclusion criteria. Most were female (25, 69%, F:M ratio 2.2:1). Fifty MR imaging studies were analyzed, and 35 (70%) had delayed myelination. Two independent readers scored brain myelination with excellent interrater reliability. Three recognizable evolving MR imaging patterns with distinct age distributions and improving myelination scores were identified: Pelizaeus-Merzbacher disease-like (9.9 months, 37), intermediate (22 months, 48), and washed-out pattern (113.6 months, 53). Etiologically, MRIs were analyzed across 3 subgroups: 18q deletion (34, 69%), trisomy 18 (10, 21%), and ring chromosome 18 (5, 10%). Ring chromosome 18 had the highest myelination lag (27, P = .005) and multifocal white matter changes (P = .001). Trisomy 18 had smaller pons and cerebellar dimensions (anteposterior diameter pons, P = .002; corpus callosum vermis, P < .001; and transverse cerebellar diameter, P = .04). CONCLUSIONS: In this cohort of 18q chromosomal abnormalities, MR imaging revealed recognizable patterns correlating with improving brain myelination. Imaging findings appear to be on a continuum with more severe white matter abnormalities in ring chromosome 18 and greater prevalence of structural abnormalities of the pons and cerebellum in trisomy 18.


Assuntos
Cromossomos Humanos Par 18 , Imageamento por Ressonância Magnética , Humanos , Feminino , Masculino , Cromossomos Humanos Par 18/genética , Lactente , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Pré-Escolar , Deleção Cromossômica , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Cromossomos em Anel , Estudos de Coortes , Síndrome da Trissomía do Cromossomo 18/diagnóstico por imagem , Síndrome da Trissomía do Cromossomo 18/genética , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Transtornos Cromossômicos/diagnóstico por imagem , Transtornos Cromossômicos/genética
4.
Commun Biol ; 7(1): 606, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769442

RESUMO

Well-differentiated liposarcoma (WDLS) displays amplification of genes on chromosome 12 (Chr12) in supernumerary ring or giant marker chromosomes. These structures have been suggested to develop through chromothripsis, followed by circularization and breakage-fusion-bridge (BFB) cycles. To test this hypothesis, we compared WDLSs with Chr12 amplification in rod-shaped chromosomes with WDLSs with rings. Both types of amplicons share the same spectrum of structural variants (SVs), show higher SV frequencies in Chr12 than in co-amplified segments, have SVs that fuse the telomeric ends of co-amplified chromosomes, and lack interspersed deletions. Combined with the finding of cells with transient rod-shaped structures in tumors with ring chromosomes, this suggests a stepwise process starting with the gain of Chr12 material that, after remodeling which does not fit with classical chromothripsis, forms a dicentric structure with other chromosomes. Depending on if and when telomeres from other chromosomes are captured, circularized or linear gain of 12q sequences will predominate.


Assuntos
Amplificação de Genes , Lipossarcoma , Proteínas Proto-Oncogênicas c-mdm2 , Humanos , Lipossarcoma/genética , Lipossarcoma/patologia , Proteínas Proto-Oncogênicas c-mdm2/genética , Cromossomos Humanos Par 12/genética , Cromotripsia , Cromossomos em Anel
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(3): 257-265, 2024 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-38448011

RESUMO

OBJECTIVE: To assess the value of optical genome mapping (OGM) for the detection of chromosomal structural abnormalities including ring chromosomes, balanced translocations, and insertional translocations. METHODS: Clinical data of four patients who underwent pre-implantation genetic testing concurrently with OGM and chromosomal microarray analysis at the Center of Reproductive Medicine of the Sixth Affiliated Hospital of Sun Yat-sen University from January to October 2022 due to chromosomal structural abnormalities were selected as the study subjects. Some of the results were verified by multi-color fluorescence in situ hybridization. RESULTS: The OGM has successfully detected a balanced translocation and fine mapped the breakpoints in a patient. Among two patients with insertional translocations, OGM has provided more refined breakpoint locations than karyotyping analysis in a patient who had chromosome 3 inserted into chromosome 6 and determined the direction of the inserted fragment. However, OGM has failed to detect the chromosomal abnormality in a patient with chromosome 8 inserted into the Y chromosome. It has also failed to detect circular signals in a patient with ring chromosome mosaicism. CONCLUSION: OGM has successfully detected chromosomal structural variations in the four patients and provided assistance for their diagnosis.


Assuntos
Cromossomos Humanos Par 3 , Cromossomos em Anel , Humanos , Hibridização in Situ Fluorescente , Cromossomos Humanos Par 6 , Translocação Genética , Mapeamento Cromossômico
7.
Epilepsia ; 65(4): 1147-1148, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38441298
8.
Am J Med Genet A ; 194(2): 253-267, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37807876

RESUMO

Ring chromosomes (RCs) are a structural aberration that can be tolerated better in acrocentric or gonosomal chromosomes. Complete RCs arise from telomere-telomere fusions. Alternatively, genomic imbalances corresponding to the ends of the chromosomal arms can be seen with RC formation. RCs are unstable in mitosis, result in mosaicism, and are associated with a "ring syndrome," which presents with growth and development phenotypes and differs from those features more frequently observed with pure terminal copy number changes. Due to variability in mosaicism, size, and genomic content, clear genotype-phenotype correlations may not always be possible. Given the rarity of RCs, this historical data is invaluable. We performed a retrospective review of individuals bearing RCs to investigate the incidence in our laboratory. This work details the methods and features seen in association with twenty-three autosomal RCs. In decreasing order, the most frequently seen autosomal RCs were 18, 22, 4, 13, 17, and 9. The additional cases detail clinical and cytogenomic events similar to those reported in RCs. As methodologies advance, insights may be gleaned from following up on these cases to improve genotype-phenotype correlations and understand the cryptic differences or other predisposing factors that lead to ring formation and development.


Assuntos
Cromossomos em Anel , Humanos , Hibridização in Situ Fluorescente , Mosaicismo , Fenótipo , Hospitais
9.
Cleft Palate Craniofac J ; 61(3): 527-533, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36624583

RESUMO

This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay.


Assuntos
Transtornos Cromossômicos , Fenda Labial , Fissura Palatina , Cromossomos em Anel , Masculino , Humanos , Pré-Escolar , Fenda Labial/genética , Fenda Labial/cirurgia , Fissura Palatina/genética , Fissura Palatina/cirurgia , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 7
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(12): 1455-1460, 2023 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-37994123

RESUMO

OBJECTIVE: To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT). METHODS: A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple. The fetus and the pregnant woman were also subjected to genomic copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) assay. RESULTS: NIPT result suggested that the fetus had monomeric mosaicism or fragment deletion on chromosome 13. G banded chromosomal analysis showed that both the fetus and its mother had a karyotype of 47,XX,der(13)(pter→p11::q22→q10),+r(13)(::p10::q22→qter::), whilst her husband had a normal karyotype. FISH has verified the above results. No abnormality was detected with CNV-seq and CMA in both the fetus and the pregnant woman. CONCLUSION: The ring chromosome 13 in the fetus has derived from its mother without any deletion, duplication and mosaicism. Both the fetus and the pregnant woman were phenotypically normal.


Assuntos
Cromossomos em Anel , Humanos , Gravidez , Feminino , Cromossomos Humanos Par 13/genética , Hibridização in Situ Fluorescente , Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal/métodos , Líquido Amniótico
11.
J Genet ; 1022023.
Artigo em Inglês | MEDLINE | ID: mdl-37731249

RESUMO

The ring chromosome 21[r(21)] syndrome is a rare disorder, and mainly occurs as a de novo event. However, a wide variation of the phenotype has been reported in r(21) cases depending on breakpoints, loss of genetic material, and mosaicism of cells with r(21) and monosomy 21, causing copy number alterations. A 29-month-old female was referred to the centre for seizures, developmental delay, microcephaly, hypotonia, deafness, and other congenital abnormalities. Physical examination revealed short stature and multiple facial dysmorphism. She was unable to sit, walk or stand by herself. Cytogenetic study with GTG banding revealed a karyotype of mos 46,XX,r(21)(p11.1q22.12)[70]/45,XX,-21[10]/47,XX,r(21),+r(21)[1]/46,XX[10]. Additionally, molecular cytogenetics refined the breakpoints and characterized the deleted region (RP11-410P24/CHR21: 32849565-33019511) in the clone with the r(21) as ~12-14 Mb contiguous region at 21q22.12 to 21qter. The present study has accurately detected copy number alterations caused by ring chromosome formation. The basis of the UCSC Genome Browser on Human (GRCh38/hg38) analysis suggests hemizygous expression of a deleted critical region of chromosome 21 in ring chromosome cell lines. This is likely to be the underlying cause of the present phenotypes in the patient. Overall, the genotype-phenotypic correlation in r(21) cases remains widely diverse, most likely due to tissue-specific mosaicism of the 45, XX,-21 cell line.


Assuntos
Anormalidades Múltiplas , Cromossomos em Anel , Humanos , Criança , Feminino , Pré-Escolar , Cromossomos Humanos Par 21/genética , Anormalidades Múltiplas/genética , Convulsões/genética , Transtornos do Crescimento
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(8): 1032-1035, 2023 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-37532507

RESUMO

OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION: The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.


Assuntos
Mosaicismo , Cromossomos em Anel , Gravidez , Feminino , Humanos , Veia Cava Superior , Aberrações Cromossômicas , Diagnóstico Pré-Natal , Análise em Microsséries , Feto/diagnóstico por imagem
13.
Growth Horm IGF Res ; 71: 101550, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37531800

RESUMO

Type 1 Insulin-like Growth Factor Receptor(IGF1R) plays a fundamental role in normal growth and development. Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15. SUBJECT AND METHOD: We tested a high dose of rhGH in a new patient with ring chromosome 15, as confirmed by karyotype and CGH array. We performed a systematic review, and all published r(15) syndrome cases treated by growth hormone(GH) up to April 2023 were searched, and their response to GH therapy was recorded and summarized. RESULTS: Twelve patients with ring chromosome 15 received GH therapy according to a literature review. We expand the spectrum by the 13th case treated by GH, and we report an impressive improvement in intellectual performance and progressive catch-up growth after 5 and 20 months of follow-up. By introducing our new case in the analysis, the sex ratio was 3:10, and GH therapy was started at the age of 5.5 (3/9.4) (years) for an age of diagnosis of 4.75 (1.3/9.5) (years). The height before GH therapy was -5.1(-5.9/-4.1) SDS. The median duration of treatment was 1.7(0.9/2) (years), with a median height gain of 1(0.3/1.8) SDS and an improvement in growth velocity of 4.1(2.8/5.3) (cm/year). CONCLUSION: GH seems to be effective for r(15) syndrome patients with short stature.


Assuntos
Nanismo , Hormônio do Crescimento Humano , Cromossomos em Anel , Criança , Humanos , Pré-Escolar , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento , Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/genética , Nanismo/tratamento farmacológico , Síndrome
14.
Syst Biol Reprod Med ; 69(5): 387-393, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37401907

RESUMO

Azoospermia can be diagnosed with spermiogram analysis, and karyotyping is the golden standard to explain the etiology. In this study, we investigated two male cases with azoospermia and male infertility for chromosomal abnormalities. Their phenotypes and physical and hormonal examinations were both normal. In karyotyping G-banding and NOR staining, a rare ring chromosome 21 abnormality was detected in the cases and no microdeletion in chromosome Y. Ring abnormality, deletion size, and deleted regions were shown with subtelomeric FISH (.ish r(21)(p13q22.3?)(D21S1446-)) and array CGH analyses. Due to the findings, bioinformatics, protein, and pathway analyses were done to detect a candidate gene through common genes in two cases' deleted regions or ring chromosome 21.


Assuntos
Azoospermia , Infertilidade Masculina , Oligospermia , Cromossomos em Anel , Humanos , Masculino , Azoospermia/genética , Oligospermia/genética , Infertilidade Masculina/genética , Aberrações Cromossômicas , Cariotipagem , Deleção Cromossômica , Cromossomos Humanos Y , Aberrações dos Cromossomos Sexuais
16.
Eur J Med Genet ; 66(7): 104773, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37120077

RESUMO

This paper focuses on genetic counselling in Phelan-McDermid syndrome (PMS), a rare neurodevelopmental disorder caused by a deletion 22q13.3 or a pathogenic variant in SHANK3. It is one of a series of papers written by the European PMS consortium as a consensus guideline. We reviewed the available literature based on pre-set questions to formulate recommendations on counselling, diagnostic work-up and surveillance for tumours related to ring chromosome 22. All recommendations were approved by the consortium, which consists of professionals and patient representatives, using a voting procedure. PMS can only rarely be diagnosed based solely on clinical features and requires confirmation via genetic testing. In most cases, the family will be referred to a clinical geneticist for counselling after the genetic diagnosis has been made. Family members will be investigated and, if indicated, the chance of recurrence discussed with them. Most individuals with PMS have a de novo deletion or a pathogenic variant of SHANK3. The 22q13.3 deletion can be a simple deletion, a ring chromosome 22, or the result of a parental balanced chromosomal anomaly, influencing the risk of recurrence. Individuals with a ring chromosome 22 have an increased risk of NF2-related schwannomatosis (formerly neurofibromatosis type 2) and atypical teratoid rhabdoid tumours, which are associated with the tumour-suppressor genes NF2 and SMARCB1, respectively, and both genes are located on chromosome 22. The prevalence of PMS due to a ring chromosome 22 is estimated to be 10-20%. The risk of developing a tumour in an individual with a ring chromosome 22 can be calculated as 2-4%. However, those individuals who do develop tumours often have multiple. We recommend referring all individuals with PMS and their parents to a clinical geneticist or a comparably experienced medical specialist for genetic counselling, further genetic testing, follow-up and discussion of prenatal diagnostic testing in subsequent pregnancies. We also recommend karyotyping to diagnose or exclude a ring chromosome 22 in individuals with a deletion 22q13.3 detected by molecular tests. If a ring chromosome 22 is found, we recommend discussing personalised follow-up for NF2-related tumours and specifically cerebral imaging between the age of 14 and 16 years.


Assuntos
Transtornos Cromossômicos , Neurofibromatose 2 , Cromossomos em Anel , Adolescente , Feminino , Humanos , Gravidez , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22/genética , Aconselhamento , Neurofibromatose 2/genética
17.
Radiat Environ Biophys ; 62(2): 195-212, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37074445

RESUMO

The study aim was to determine the optimal gamma irradiation dose for mutation breeding in Triticum turgidum ssp. durum L. Root, shoot and seedling growth, as well as the efficiency of energy conversion into growth were determined to examine the growth retardation effects of gamma irradiation that are the result of DNA damage (bridges, ring chromosomes, micronuclei, incomplete mitosis) in Triticum turgidum ssp. durum L. The kernels were irradiated with doses of 50, 150, 250 and 350 Gy using a 60Cobalt gamma-ray source. The kernels were placed in germination paper at 25 °C to grow for a 132 h period for the determination of shoot and root growth and the efficiency of energy conversion into growth. Root tips were collected and fixated over a 47.5 h growth period for the determination of the chromosomal abnormalities and incomplete mitosis. The control differed highly significantly (p < 0.01) from irradiated samples at all doses in root growth and from 250 to 350 Gy samples in shoot growth and the efficiency of energy conversion into growth. There was a highly significant (p < 0.01) increase in the number of bridges and micronuclei between 50 Gy samples and samples irradiated with the higher irradiation doses while 50 Gy samples differed only from 250 and 350 Gy samples regarding ring chromosomes and interphase cells with incomplete mitosis. Root and seedling growth on the one hand and the efficiency of energy conversion into growth on the other were found to be measuring different effects of gamma irradiation on plant growth. The latter was used for the determination of the optimal dose for mutation breeding as 155.52 Gy.


Assuntos
Cromossomos em Anel , Triticum , Triticum/genética , Melhoramento Vegetal , Mitose
18.
Genes (Basel) ; 14(3)2023 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-36980958

RESUMO

(1) Background: In acute lymphoblastic leukemia (ALL) the genetic characterization remains challenging. Due to the genetic heterogeneity of mutations in adult patients, only a small proportion of aberrations can be analyzed with standard routine diagnostics. Optical genome mapping (OGM) has recently opened up new possibilities for the characterization of structural variants on a genome-wide level, thus enabling simultaneous analysis for a broad spectrum of genetic aberrations. (2) Methods: 11 adult ALL patients were examined using OGM. (3) Results: Genetic results obtained by karyotyping and FISH were confirmed by OGM for all patients. Karyotype was redefined, and additional genetic information was obtained in 82% (9/11) of samples by OGM, previously not diagnosed by standard of care. Besides gross-structural chromosome rearrangements, e.g., ring chromosome 9 and putative isodicentric chromosome 8q, deletions in CDKN2A/2B were detected in 7/11 patients, defining an approx. 20 kb minimum region of overlap, including an alternative exon 1 of the CDKN2A gene. The results further confirm recurrent ALL aberrations (e.g., PAX5, ETV6, VPREB1, IKZF1). (4) Conclusions: Genome-wide OGM analysis enables a broad genetic characterization in adult ALL patients in one single workup compared to standard clinical testing, facilitating a detailed genetic diagnosis, risk-stratification, and target-directed treatment strategies.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras , Cromossomos em Anel , Humanos , Hibridização in Situ Fluorescente/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Cariotipagem , Doença Aguda , Mapeamento Cromossômico
19.
Genes (Basel) ; 14(2)2023 01 23.
Artigo em Inglês | MEDLINE | ID: mdl-36833226

RESUMO

Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.


Assuntos
Transtornos Cromossômicos , Epilepsia , Cromossomos em Anel , Estado Epiléptico , Adulto , Humanos , Criança , Convulsões
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(2): 191-194, 2023 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-36709939

RESUMO

OBJECTIVE: To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development. METHODS: From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis. RESULTS: Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.16% and included 1 r(6), 2 r(9), 1 r(13), 1 r(14), 2 r(15), 1 r(21) and 3 r(X). The children had various clinical manifestations including growth and mental retardation, limb malformation, and congenital heart disease. For two children with r(9) and two with r(15) with similar breakpoints, one child with r(9) and one with r(15) only had growth retardation, whilst another with r(9) and another with r(15) also had peculiar facies and complex congenital heart disease. The r(X) has featured some manifestations of Turner syndrome. CONCLUSION: Ring chromosomes are among the common causes for severe growth and mental retardation in children with diverse clinical phenotypes. Clinicians should pay attention to those with developmental anomalies and use chromosomal analysis to elucidate their genetic etiology.


Assuntos
Cardiopatias Congênitas , Deficiência Intelectual , Cromossomos em Anel , Síndrome de Turner , Humanos , Deficiência Intelectual/genética , Síndrome de Turner/genética , Fenótipo , Cardiopatias Congênitas/genética
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