Analysis of small supernumerary marker chromosome 15q11 in four infertile males / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 539-543, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-237211
ABSTRACT
<p><b>OBJECTIVE</b>To delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 15
/
Genetic Markers
/
Chromosome Banding
/
Genetics
/
Infertility, Male
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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