[Analysis of small supernumerary marker chromosome 15q11 in four infertile males].
OBJECTIVE
To delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males.


METHODS
The 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.


RESULTS
G-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.


CONCLUSIONS
In 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.
PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P. R. China. Email: tuxdmed@126.com.
Xiang-dong
XD
Tu
Xue-wen
XW
Cong
Jian
J
Zeng
De-zhu
DZ
Zheng
Ai-zhen
AZ
Yan
Yan-hong
YH
Lin
Li-ping
LP
Qiu
Min
M
Zhang
Fuchun
F
Zhong
Fenghua
F
Lan
D000328:Adult; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011247:Pregnancy
D005819:Genetic Markers