PMID- 25863094
OWN - NLM
STAT- MEDLINE
DCOM- 20150618
LR  - 20150412
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 32
IP  - 2
DP  - 2015 Apr
TI  - [Genetic analysis and counseling for two fetal cases with large de novo Yq 
      deletions].
PG  - 233-6
LID - 10.3760/cma.j.issn.1003-9406.2015.02.018 [doi]
AB  - OBJECTIVE: To analyze the deletion region for two fetal cases with large Yq 
      deletions in order to provide genetic counseling and prenatal diagnosis. METHODS: 
      For both cases, amniotic fluid samples were cultured and analyzed with G banding 
      and fluorescence in situ hybridization (FISH). Multiplex polymerase chain 
      reaction was also carried out to amplify 15 sequence tagged sites (STS) of 
      azoospermia factor (AZF) on the Y chromosome. RESULTS: For both samples, the 
      karyotypes were determined as 46,X,del(Y)(pter-->q11:). No heterochromatin was 
      found in C band. The karyotypes of their fathers were 46,XY, and heterochromatin 
      was found in C band. STS analyses suggested that only sY82, sY84 and sY86 in AZFa 
      were amplifiable while the other 12 STS were negative in amniotic fluid for the 
      first case, which indicated deletions of AZFb, AZFd and AZFc. No AZF deletion was 
      found in its father. For the second case, all 15 STS were amplifiable in the 
      amniotic fluid, suggesting no AZF deletion. No AZF deletion was found in its 
      father too. CONCLUSION: Conventional karyotyping combined with FISH and molecular 
      genetics techniques can enable characterization of AZF microdeletions and 
      facilitate genetic counseling and prenatal diagnosis.
FAU - Zhang, Weiguo
AU  - Zhang W
AD  - Central Laboratory, Taizhou Hospital, Linhai, Zhejiang 317000, P.R. China. 
      zhangwgtzhospital@163.com.
FAU - Zhang, Weiqing
AU  - Zhang W
FAU - Pan, Yingqiu
AU  - Pan Y
FAU - Yang, Huanli
AU  - Yang H
FAU - Dai, Meizhen
AU  - Dai M
FAU - Chen, Xuejiao
AU  - Chen X
FAU - Zhang, Yuan
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
SB  - IM
MH  - Adult
MH  - Azoospermia/genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2015/04/12 06:00
MHDA- 2015/06/19 06:00
CRDT- 2015/04/12 06:00
PHST- 2015/04/12 06:00 [entrez]
PHST- 2015/04/12 06:00 [pubmed]
PHST- 2015/06/19 06:00 [medline]
AID - 940632049 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2015.02.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):233-6. doi: 
      10.3760/cma.j.issn.1003-9406.2015.02.018.