Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome.
- Author:
Zhanqi FENG
1
,
2
,
3
;
Heping HU
;
Changqing MAO
;
Dingzhan WANG
;
Lei LIU
;
Shiling LIU
;
Zhian JING
;
Hongyan LIU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 5; genetics; Comparative Genomic Hybridization; Cri-du-Chat Syndrome; diagnosis; embryology; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; Karyotyping; Male; Prenatal Diagnosis; Trisomy; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2017;34(2):240-243
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.
METHODSChromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.
RESULTSThe karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.
CONCLUSIONaCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.
