Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man.
- VernacularTitle:两条染色体复杂易位伴无精子症患者细胞与分子遗传学分析
- Author:
Yu-qin LUO
1
;
Min SHEN
;
Yu-li QIAN
;
Yu-lan CHEN
;
Chen-ming XU
;
Fan JIN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Azoospermia; genetics; Chromosome Breakage; Chromosome Deletion; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 3; Chromosomes, Human, X; Chromosomes, Human, Y; DNA; analysis; Humans; Karyotyping; Male; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2009;26(2):200-202
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man.
METHODSPeripheral blood lymphocytes we re obtained for karyotyping, and metaphases were studied by multicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction.
RESULTSThe case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci.
CONCLUSIONCCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.
