PMID- 31813147
OWN - NLM
STAT- MEDLINE
DCOM- 20191211
LR  - 20200108
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 12
DP  - 2019 Dec 10
TI  - [Genetic analysis of a child with mental retardation and hypospadia].
PG  - 1199-1202
LID - 10.3760/cma.j.issn.1003-9406.2019.12.012 [doi]
AB  - OBJECTIVE: To carry out genetic testing for a boy presenting with mental 
      retardation and hypoplasia. METHODS: Conventional karyotyping, fluorescence in 
      situ hybridization (FISH) and single nucleotide polymorphism based array 
      (SNP-array) were used to analyze the boy and his parents. RESULTS: SNP-array has 
      detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal 
      karyotyping and FISH analysis indicated that his mother had a karyotype of 
      46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal 
      chromosome 11 derived from the maternal translocation. The karyotype of the boy 
      was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat. CONCLUSION: 
      SNP-array combined with G-banding and FISH can delineate the cryptic 
      translocation and is valuable for the assessment of recurrence risk for 
      subsequent pregnancies.
FAU - Ma, Na
AU  - Ma N
AD  - Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care 
      Hospital, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
FAU - Pang, Jialun
AU  - Pang J
FAU - Peng, Ying
AU  - Peng Y
FAU - Jia, Zhengjun
AU  - Jia Z
FAU - Xi, Hui
AU  - Xi H
FAU - Liu, Guoying
AU  - Liu G
FAU - Zhou, Yuchun
AU  - Zhou Y
FAU - Wang, Hua
AU  - Wang 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  - Chromosome Duplication
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Hypospadias/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - *Karyotyping
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Translocation, Genetic
EDAT- 2019/12/10 06:00
MHDA- 2019/12/18 06:00
CRDT- 2019/12/09 06:00
PHST- 2019/12/09 06:00 [entrez]
PHST- 2019/12/10 06:00 [pubmed]
PHST- 2019/12/18 06:00 [medline]
AID - 940636255 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.12.012 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1199-1202. doi: 
      10.3760/cma.j.issn.1003-9406.2019.12.012.