PMID- 37096267
OWN - NLM
STAT- MEDLINE
DCOM- 20230426
LR  - 20230426
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 61
IP  - 5
DP  - 2023 May 2
TI  - [Clinical and genetic characteristic in patients with disorders of sex 
      development caused by Y chromosome copy number variant].
PG  - 459-463
LID - 10.3760/cma.j.cn112140-20221115-00965 [doi]
AB  - Objective: To investigate the clinical phenotype and genetic characteristics of 
      disorders of sex development (DSD) caused by Y chromosome copy number variant 
      (CNV). Methods: A retrospective analysis was performed on 3 patients diagnosed 
      with DSD caused by Y chromosome CNV admitted to the First Affiliated Hospital of 
      Zhengzhou University from January, 2018 to September, 2022. Clinical data were 
      collected. Clinical study and genetic test were performed by karyotyping, whole 
      exome sequencing (WES), low coverage whole genome copy number variant sequencing 
      (CNV-seq), fluorescence in situ hybridization (FISH) and gonadal biopsy. Results: 
      The 3 children, aged 12, 9, 9 years, the social gender were all female, presented 
      with short stature, gonadal dysplasia and normal female external genital. No 
      other phenotypic abnormality was found except for case 1 with scoliosis. The 
      karyotype of all cases were identified as 46, XY. No pathogenic vraiants were 
      found by WES. CNV-seq determined that case 1 was 47, XYY,+Y(2.12) and case 2 was 
      46, XY,+Y(1.6). FISH concluded that the long arm of Y chromosome was broken and 
      recombined near Yq11.2, and then produced a pseudodicentric chromosome idic(Y). 
      The karyotype was reinterpreted as mos 47, X, idic(Y)(q11.23)x2(10)/46, X, 
      idic(Y)(q11.23)(50) in case 1. The karyotype was redefined as 45, XO(6)/46, X, 
      idic(Y)(q11.22)(23)/46, X, del(Y)(q11.22)(1) in case 2. 46, XY, -Y(mos) was found 
      by CNV-seq in case 3, and the karyotype of 45, XO/46, XY was speculated. 
      Conclusions: The clinical manifestations of children with DSD caused by Y 
      chromosome CNV are short stature and gonadal dysgenesis. If there is an increase 
      of Y chromosome CNV detected by CNV-seq, FISH is recommended to classify the 
      structural variation of Y chromosome.
FAU - Xia, J K
AU  - Xia JK
AD  - Prenatal and Genetic Diagnosis Center, Department of Gynaecology and Obstetrics, 
      the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
FAU - Tian, F Y
AU  - Tian FY
AD  - Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, 
      Zhengzhou 450052, China.
FAU - Hou, Y Q
AU  - Hou YQ
AD  - Prenatal and Genetic Diagnosis Center, Department of Gynaecology and Obstetrics, 
      the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
FAU - Zhao, Y J
AU  - Zhao YJ
AD  - Prenatal and Genetic Diagnosis Center, Department of Gynaecology and Obstetrics, 
      the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
FAU - Kong, X D
AU  - Kong XD
AD  - Prenatal and Genetic Diagnosis Center, Department of Gynaecology and Obstetrics, 
      the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
LA  - chi
GR  - 2018YFC1002203/National Key Research and Development Program of China/
GR  - 2021KJHM0003/Science and Technology Huimin Project of Zhengzhou/
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
SB  - IM
MH  - Humans
MH  - Female
MH  - *DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - Retrospective Studies
MH  - Chromosomes, Human, Y
MH  - *Turner Syndrome
EDAT- 2023/04/25 06:42
MHDA- 2023/04/26 06:41
CRDT- 2023/04/25 02:20
PHST- 2023/04/26 06:41 [medline]
PHST- 2023/04/25 06:42 [pubmed]
PHST- 2023/04/25 02:20 [entrez]
AID - 10.3760/cma.j.cn112140-20221115-00965 [doi]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2023 May 2;61(5):459-463. doi: 
      10.3760/cma.j.cn112140-20221115-00965.