PMID- 27577220
OWN - NLM
STAT- MEDLINE
DCOM- 20170104
LR  - 20170105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 5
DP  - 2016 Oct
TI  - [Genetic and prenatal diagnosis of a pregnant women with mental retardation].
PG  - 674-7
LID - 10.3760/cma.j.issn.1003-9406.2016.05.021 [doi]
AB  - OBJECTIVE: To conduct genetic testing and prenatal diagnosis for a pregnant women 
      with growth retardation, severe mental retardation, and a history of adverse 
      pregnancies. METHODS: G-banded chromosome analysis, fluorescence in situ 
      hybridization (FISH), and whole genome DNA microarray were used to analyze the 
      patient and her fetus. RESULTS: The women was found to be a chimera containing 
      two cell lines with 47 and 46 chromosomes, respectively. Both have involved 
      deletion of 18q21.2q23. FISH analysis suggested that the cell line containing 47 
      chromosomes has harbored a chromosome marker derived from chromosome 15. The 
      marker has contained chromosome 15p involving the SNRPN locus and part of 15q, 
      which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D15Z1+ 
      SNRPN+[82]/46,XX,del18q21.3[18]. Whole genome DNA microarray confirmed that a 
      3.044 Mb fragment from 15q11.2q12 was duplicated, which involved NIPA1, SNRPN and 
      other 17 OMIM genes. Duplication of this region has been characterized by low 
      mental retardation, autism, developmental delay. Meanwhile, there was a 17.992 Mb 
      deletion at 18q21.33q23, which contained 39 OMIM genes including TNFRSF11A and 
      PHLPP1. This fragment was characterized by mental retardation, developmental 
      delay, short stature, and cleft palate. Whole genome microarray analysis 
      confirmed that there was a 17.9 Mb deletion at 18q21.33q23, which has been 
      implemented with mental retardation, general growth retardation, short stature, 
      and cleft palate. After genetic counseling, the family decided to terminate the 
      pregnancy at 21st week. CONCLUSION: Combined chromosome karyotyping, FISH, and 
      whole genome DNA microarray can determine the origin of marker chromosomes and 
      facilitate delineation of its correlation with the clinical phenotype.
FAU - Zhang, Lin
AU  - Zhang L
AD  - Center of Prenatal Diagnosis, Peking University People's Hospital, Beijing 
      100044, China. Email: zhanglinsun@sina.com.
FAU - Ren, Meihong
AU  - Ren M
FAU - Song, Guining
AU  - Song G
FAU - Liu, Xuexia
AU  - Liu X
FAU - Zhang, Jing
AU  - Zhang J
FAU - Wang, Jianliu
AU  - Wang J
LA  - chi
PT  - Case Reports
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  - Abortion, Eugenic
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Fetus/abnormalities/*metabolism
MH  - Growth Disorders/embryology/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/embryology/*genetics
MH  - Karyotype
MH  - Karyotyping
MH  - Prenatal Diagnosis/*methods
EDAT- 2016/09/01 06:00
MHDA- 2017/01/05 06:00
CRDT- 2016/09/01 06:00
PHST- 2016/09/01 06:00 [entrez]
PHST- 2016/09/01 06:00 [pubmed]
PHST- 2017/01/05 06:00 [medline]
AID - 940633142 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.05.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):674-7. doi: 
      10.3760/cma.j.issn.1003-9406.2016.05.021.