Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1430-1435, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-1009317
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a rare case with Disorder of sex development.@*METHODS@#Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out.@*RESULTS@#The patient, a 14-year-old female, had manifested short stature and dysplasia of second sex characteristics. She was found to have a 46,XY karyotype and positive for the SRY gene. No pathogenic variant was found by WES, except a duplication at Yp11.32q12. The result of CNV-seq was 47,XYY. FISH has confirmed mosaicism for a dicentric Y chromosome. A 23.66 Mb duplication on Yp11.32q11.223 and a 5.16 Mb deletion on Yq11.223q11.23 were found by WGS. The breakpoint was mapped at chrY 23656267. The patient's karyotype was ultimately determined as 46,X,psu idic(Y)(q11.223)/46,X,del(Y)(q11.223).@*CONCLUSION@#The combination of multiple methods has facilitated clarification of the genetic etiology in this patient, which has provided a reference for the clinical diagnosis and treatment.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomo Y
/
Hibridização in Situ Fluorescente
/
Desenvolvimento Sexual
/
Variações do Número de Cópias de DNA
/
Mosaicismo
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
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