PMID- 24711034
OWN - NLM
STAT- MEDLINE
DCOM- 20140605
LR  - 20140408
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 2
DP  - 2014 Apr
TI  - [Genetic analysis of a family with super-male syndrome].
PG  - 210-3
LID - 10.3760/cma.j.issn.1003-9406.2014.02.018 [doi]
AB  - OBJECTIVE: To identify the genetic cause for a family featuring language 
      retardation using combined cytogenetic and molecular genetic methods. METHODS: 
      Following conventional G-banded karyotype analysis, the additional Y chromosome 
      was identified by fluorescence in situ hybridization (FISH) and multiplex 
      ligation dependent probe amplification (MLPA). Whole genome array comparative 
      genomic hybridization (aCGH) was also carried out to detect minor structural 
      chromosomal abnormalities. RESULTS: The proband's karyotype was determined as 
      47,XY,+?, and the unknown aberrant chromosome was identified as Yqh+ with FISH, 
      MLPA and aCGH. No other chromosomal abnormality was found in the pedigree. 
      CONCLUSION: Cytogenetic methods combined with FISH, MLPA, and aCGH can 
      efficiently identify the origin of unknown chromosomes and provide accurate clues 
      for clinical diagnosis and treatment.
FAU - Zhang, Jianlin
AU  - Zhang J
AD  - Department of Gynecology and Obstetrics, The Hospital Affiliated to Nantong 
      University, Nantong, Jiangsu 226000, P. R. China. jsnt_zhangyuquan@163.com.
FAU - Li, Haibo
AU  - Li H
FAU - Jiang, Shenghua
AU  - Jiang S
FAU - Chen, Ying
AU  - Chen Y
FAU - Zhang, Yuquan
AU  - Zhang Y
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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
RN  - 47, XYY syndrome
SB  - IM
MH  - Child, Preschool
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Multiplex Polymerase Chain Reaction
MH  - Sex Chromosome Disorders/*genetics
MH  - XYY Karyotype/*genetics
EDAT- 2014/04/09 06:00
MHDA- 2014/06/06 06:00
CRDT- 2014/04/09 06:00
PHST- 2014/04/09 06:00 [entrez]
PHST- 2014/04/09 06:00 [pubmed]
PHST- 2014/06/06 06:00 [medline]
AID - 940631045 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.02.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):210-3. doi: 
      10.3760/cma.j.issn.1003-9406.2014.02.018.