Familial complex chromosome rearrangement (CCR) involving 5 breakpoints on chromosomes 1, 3 and 13 in a severe oligozoospermic patient
نویسندگان
چکیده
منابع مشابه
a rare de novo complex chromosomal rearrangement (ccr) involving four chromosomes in an oligo-asthenosperm infertile man
complex chromosomal rearrangements (ccrs) are rare events involving more than two chromosomes and over two breakpoints. they are usually associated with infertility or sub fertility in male carriers. here we report a novel case of a ccr in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis t...
متن کاملA de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.
OBJECTIVE To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. DESIGN Case report with a review of the literature. SETTING Academic research environment. PATIENT(S) A man with oligospermia but otherwise apparently healthy. INTERVENTION(S) Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by ...
متن کاملA Rare De novo Complex Chromosomal Rearrangement (CCR) Involving Four Chromosomes in An Oligo-asthenosperm Infertile Man
Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis t...
متن کاملA de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted g...
متن کاملFamilial complex chromosome rearrangement ascertained by in situ hybridisation.
A complex familial chromosome translocation has been ascertained by combining classical cytogenetics and CISS (chromosomal in situ suppression). Cytogenetic analysis of a chorionic villus sample with G banding showed a 47,XX,-2, +der(2)t(2;22),+der(22)t(2;22) karyotype. Analysis of peripheral blood lymphocytes from the parents by G banding and CISS showed a more complex translocation in the fat...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2013
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-013-9934-z