- Author:
Xue-qin XU
1
,
2
,
3
;
Ping WANG
;
Shao-hua TANG
;
Huan-zheng LI
;
Zhao-ke ZHENG
;
Fan-ni XIE
;
Jian-xin LV
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Disorders; diagnosis; embryology; genetics; Female; Genetic Markers; genetics; Humans; Karyotyping; Male; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2013;30(4):447-450
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the origin of 1 prenatally detected small supernumerary marker chromosome (sSMC) using SNP-chip technology, and to deduce the underlying mechanism.
METHODSThe fetal sample was subjected to karyotype analysis. The identified sSMC was subjected to genom wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).
RESULTSThe karyotype of the fetus was determined as 46, X, +mar, which was verified by SNP microarray chip analysis as Yp11.2-11.3 duplication, along with loss of Yq11.2 region, FISH analysis has confirmed that the sSMC has derived from the Y chromosome.
CONCLUSIONThe karyotype of the fetus was determined as 46, X, idic(Y) (pter→ p11.2::11.2→ pter). Regional deletion of Yq11.2 has been associated with male azoospermia. SNP chip analysis can exclude minor deletions and duplications with a size of more than 1 Mb, which may be applied for verifying difficult cases as well as microdeletion and duplication syndromes upon prenatal diagnosis.