PMID- 27264816
OWN - NLM
STAT- MEDLINE
DCOM- 20160802
LR  - 20160606
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 3
DP  - 2016 Jun
TI  - [Genetic analysis for 2 females carrying idic(Y)(p) and with sex development 
      disorders].
PG  - 335-9
LID - 10.3760/cma.j.issn.1003-9406.2016.03.013 [doi]
AB  - OBJECTIVE: To investigate the phenotype-genotype association of isodicentromere Y 
      chromosome by analysis of two female patients carrying the chromosome with sexual 
      development disorders. METHODS: The karyotypes of the two patients were 
      determined by application of conventional G banding of peripheral blood samples 
      and fluorescence in situ hybridization (FISH). PCR was applied to detect the 
      presence of SRY gene. RESULTS: Conventional karyotype analysis showed case 1 to 
      be a mosaic: mos.45,X[38]/46,X,+mar[151]/47,XY,+mar[5]/47,X,+mar x 2[2]/46,XY[4], 
      FISH showed that 12 different cell lines were presented in the karyotype of case 
      1 and partial cell lines with SRY gene, the marker is an isodicentromere Y 
      chromosome [idic(Y)(p)]. No mutation was found in the SRY gene. The karyotype of 
      case 2 was mos.45,X[25]/46,X,+mar[35]. FISH showed the marker to be an idic(Y)(p) 
      without the SRY gene. CONCLUSION: The karyotype of patients carrying idic(Y)(p) 
      seems unstable, and female patients have the characteristics of short stature and 
      secondary sexual hypoplasia. Karyotype analysis combined with FISH analysis can 
      accurately determine the breakpoint of idic(Y) and identify the types of complex 
      mosaic, which may facilitate genetic counseling and prognosis.
FAU - Zhang, Yanan
AU  - Zhang Y
AD  - Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410078, 
      China. tanyueqiu@sina.com.
FAU - Wang, Hua
AU  - Wang H
FAU - Jia, Zhengjun
AU  - Jia Z
FAU - Hu, Jiancheng
AU  - Hu J
FAU - Cao, Wanglong
AU  - Cao W
FAU - Tan, Yueqiu
AU  - Tan Y
LA  - chi
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  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - *Chromosomes, Human, Y
MH  - Disorders of Sex Development/*genetics
MH  - Female
MH  - Humans
MH  - Karyotype
MH  - *Sex Chromosome Aberrations
MH  - Sex-Determining Region Y Protein/genetics
EDAT- 2016/06/07 06:00
MHDA- 2016/08/03 06:00
CRDT- 2016/06/07 06:00
PHST- 2016/06/07 06:00 [entrez]
PHST- 2016/06/07 06:00 [pubmed]
PHST- 2016/08/03 06:00 [medline]
AID - 940632072 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.03.013 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):335-9. doi: 
      10.3760/cma.j.issn.1003-9406.2016.03.013.