PMID- 27264817
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 of a fetus with partial 1q monosomy and partial 17q trisomy].
PG  - 340-3
LID - 10.3760/cma.j.issn.1003-9406.2016.03.014 [doi]
AB  - OBJECTIVE: To analyze a fetus with abnormal sonographic features and correlated 
      its genotype with phenotype. METHODS: G-banding analysis, single nucleotide 
      polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were 
      performed for the fetus. Karyotyping and FISH were also carried out for the 
      parents. RESULTS: SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb 
      duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and 
      FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) 
      translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its 
      father. CONCLUSION: The 1q44 deletion and 17q24.3q25.3 duplication may have 
      contributed to the abnormal sonographic features presented by the fetus.
FAU - Lin, Shaobin
AU  - Lin S
AD  - Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, 
      Guangzhou, Guangdong 510080, China. zhouyifm@163.com.
FAU - Zhang, Zhiqiang
AU  - Zhang Z
FAU - Wu, Jianzhu
AU  - Wu J
FAU - Ji, Yuanjun
AU  - Ji Y
FAU - Fang, Qun
AU  - Fang Q
FAU - Chen, Baojiang
AU  - Chen B
FAU - Zhou, Yi
AU  - Zhou Y
LA  - chi
PT  - Case Reports
PT  - English Abstract
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  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Translocation, Genetic
MH  - Trisomy/*genetics
MH  - Ultrasonography, Prenatal
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 - 940632073 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.03.014 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):340-3. doi: 
      10.3760/cma.j.issn.1003-9406.2016.03.014.