Analysis of small supernumerary marker chromosome 15q11 in four infertile males.
- Author:
Xiang-dong TU
1
;
Xue-wen CONG
;
Jian ZENG
;
De-zhu ZHENG
;
Ai-zhen YAN
;
Yan-hong LIN
;
Li-ping QIU
;
Min ZHANG
;
Fuchun ZHONG
;
Fenghua LAN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Banding; Chromosomes, Human, Pair 15; genetics; Female; Genetic Markers; Humans; Infertility, Male; genetics; Male; Pregnancy
- From: Chinese Journal of Medical Genetics 2013;30(5):539-543
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males.
METHODSThe sSMCs were analyzed with combined G-banding, N-banding, multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) and single nucleotide polymorphisms array (SNP-array) techniques.
RESULTSG-banding analysis has suggested a 46,X,-Y,+mar karyotype in all of the 4 cases. N-banding revealed that all of the sSMCs have possessed two satellites located on both sides. By MLPA, 1 patient showed copy number gains for 15q11.2 region. SNP-array analysis suggested that all had duplication for 15q11.1-q11.2 region, spanning 3.06 Mb, 0.9118 Mb, 1.728 Mb and 0.287 Mb, respectively. By FISH analysis, all of the sSMCs showed two hybridization signals, indicating that they were dicentric chromosomes.
CONCLUSIONIn all of the four cases, the marker chromosomes have derived from chromosome 15 and were bisatellited and dicentric, which gave rise to a karyotype of 47,XY,+ish,inv dup(15)(q11)(D15Z4++). sSMC 15q11 therefore may be a major cause for male infertility.
