Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy.
- Author:
Shaobin LIN
1
;
Zhiqiang ZHANG
;
Jianzhu WU
;
Yuanjun JI
;
Qun FANG
;
Baojiang CHEN
;
Yi ZHOU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Deletion; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 17; Female; Humans; In Situ Hybridization, Fluorescence; Polymorphism, Single Nucleotide; Pregnancy; Translocation, Genetic; Trisomy; genetics; Ultrasonography, Prenatal
- From: Chinese Journal of Medical Genetics 2016;33(3):340-343
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.
METHODSG-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.
RESULTSSNP 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.
CONCLUSIONThe 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.
