PMID- 37906155
OWN - NLM
STAT- MEDLINE
DCOM- 20231101
LR  - 20231101
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 11
DP  - 2023 Nov 10
TI  - [Genetic analysis of a rare case with Disorder of sex development due to 
      structural rearrangement of Y chromosome].
PG  - 1430-1435
LID - 10.3760/cma.j.cn511374-20210715-00598 [doi]
AB  - 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.
FAU - Mi, Manli
AU  - Mi M
AD  - Department of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child 
      Health Care Hospital, Luoyang, Henan 471000, China. kongxd@263.net.
FAU - Xia, Junke
AU  - Xia J
FAU - Hou, Yaqin
AU  - Hou Y
FAU - Dai, Peng
AU  - Dai P
FAU - Wang, Yanan
AU  - Wang Y
FAU - Kong, Xiangdong
AU  - Kong X
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Female
MH  - Humans
MH  - Adolescent
MH  - *DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - *Y Chromosome
MH  - Sexual Development
MH  - Mosaicism
EDAT- 2023/10/31 12:42
MHDA- 2023/11/01 12:45
CRDT- 2023/10/31 11:12
PHST- 2023/11/01 12:45 [medline]
PHST- 2023/10/31 12:42 [pubmed]
PHST- 2023/10/31 11:12 [entrez]
AID - 940640245 [pii]
AID - 10.3760/cma.j.cn511374-20210715-00598 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1430-1435. doi: 
      10.3760/cma.j.cn511374-20210715-00598.