[Analysis of small supernumerary marker chromosome 15q11 in four infertile males].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(5): 539-43, 2013 Oct.
Article
en Zh
| MEDLINE
| ID: mdl-24078566
ABSTRACT
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.CONCLUSION:
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.
Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 15
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Infertilidad Masculina
Límite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article