PMID- 19806569
OWN - NLM
STAT- MEDLINE
DCOM- 20100115
LR  - 20091006
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 26
IP  - 5
DP  - 2009 Oct
TI  - [Genetic diagnosis and prenatal diagnosis of Angelman syndrome].
PG  - 511-3
LID - 10.3760/cma.j.issn.1003-9406.2009.05.006 [doi]
AB  - OBJECTIVE: To evaluate the conventional cytogenetic methods in genetic diagnosis 
      and prenatal diagnosis in the family with a proband of Angelman syndrome (AS). 
      METHODS: High-resolution G-banding karyotyping and fluorescence in situ 
      hybridization (FISH) on metaphase chromosomes were performed. RESULTS: Two AS 
      patients and 1 normal fetus in the family were successfully detected by FISH. 
      CONCLUSION: Our result demonstrated that patient with type I AS could be detected 
      by combining the techniques of high-resolution G-banding and FISH with clinical 
      observation, which would offer accurate genetic counseling information to the 
      geneticists and provide the prenatal diagnosis for the AS family.
FAU - Wang, Hui-lin
AU  - Wang HL
AD  - State Key Laboratory of Medical Genetics of China, Central South University, 
      Changsha, Hunan, 410078, PR China.
FAU - Liang, De-sheng
AU  - Liang DS
FAU - Xia, Yan
AU  - Xia Y
FAU - Xia, Chun
AU  - Xia C
FAU - Wu, Ling-qian
AU  - Wu LQ
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
SB  - IM
MH  - Adult
MH  - Angelman Syndrome/*diagnosis/*genetics
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2009/10/07 06:00
MHDA- 2010/01/16 06:00
CRDT- 2009/10/07 06:00
PHST- 2009/10/07 06:00 [entrez]
PHST- 2009/10/07 06:00 [pubmed]
PHST- 2010/01/16 06:00 [medline]
AID - 940626104 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2009.05.006 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):511-3. doi: 
      10.3760/cma.j.issn.1003-9406.2009.05.006.