PMID- 33179226
OWN - NLM
STAT- MEDLINE
DCOM- 20201119
LR  - 20201119
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 11
DP  - 2020 Nov 10
TI  - [Genetic analysis of three children with disorders of sex development caused by 
      structural rearrangements of Y chromosome].
PG  - 1226-1232
LID - 10.3760/cma.j.cn511374-20190725-00373 [doi]
AB  - OBJECTIVE: To explore the genetic basis of three children with disorders of sex 
      development (DSD) in association with rare Y chromosome rearrangements. METHODS: 
      The three children, who all featured short stature and DSD, were subjected to G 
      banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, 
      sequencing of the whole SRY gene, SNP-array analysis for genomic copy number 
      variations, and fluorescence in situ hybridization (FISH). RESULTS: The combined 
      analysis revealed chromosomal abnormalities in all of the three children, 
      including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus 
      dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, 
      and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idemx2 [4]/47,XYY [2] in case 3. 
      CONCLUSION: Combined use of genetic techniques can delineate complex 
      rearrangements involving Y chromosome in patients featuring short stature and 
      DSD. Above findings have enabled molecular diagnosis and genetic counseling for 
      the patients.
FAU - Wang, Hongying
AU  - Wang H
AD  - Department of Clinical Laboratory, Wujiang District Children's Hospital, Suzhou, 
      Jiangsu 215234, China. why923811@sina.com; lihaibo-775@163.com.
FAU - Chen, Linqi
AU  - Chen L
FAU - Chen, Yuanyuan
AU  - Chen Y
FAU - Shen, Yiping
AU  - Shen Y
FAU - Li, Li
AU  - Li L
FAU - Shao, Xuejun
AU  - Shao X
FAU - Li, Haibo
AU  - Li H
LA  - chi
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  - Child
MH  - Chromosome Banding
MH  - Chromosomes, Human, Y/*genetics
MH  - *DNA Copy Number Variations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - *Sex Chromosome Aberrations
MH  - Sex Chromosome Disorders of Sex Development/*genetics
EDAT- 2020/11/13 06:00
MHDA- 2020/11/20 06:00
CRDT- 2020/11/12 05:47
PHST- 2020/11/12 05:47 [entrez]
PHST- 2020/11/13 06:00 [pubmed]
PHST- 2020/11/20 06:00 [medline]
AID - 940637223 [pii]
AID - 10.3760/cma.j.cn511374-20190725-00373 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10;37(11):1226-1232. doi: 
      10.3760/cma.j.cn511374-20190725-00373.