Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome.
- Author:
Yinsen SONG
1
;
Xiangdong JIN
;
Ding ZHAO
;
Zhenxin GUO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Child, Preschool; Chromosome Aberrations; Chromosome Banding; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Sex Chromosome Disorders; genetics; XYY Karyotype; genetics
- From: Chinese Journal of Medical Genetics 2015;32(3):378-380
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome.
METHODSConventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.
RESULTSAmong these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form.
CONCLUSIONIn children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.
