Robertsonian Translocation Associated with Azoospermia
نویسندگان
چکیده
منابع مشابه
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.
Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been proposed as a mechanism leading to the preferential formation of rob(13q14q) and rob(14q21q). Ho...
متن کاملSimultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report
Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...
متن کاملA rare non-Robertsonian translocation involving chromosomes 15 and 21.
CONTEXT Robertsonian translocations (RT) are among the most common balanced structural rearrangements in humans and comprise complete chromatin fusion of the long arm of two acrocentric chromosomes. Nevertheless, non-Robertsonian translocation involving these chromosomes is a rare event. CASE REPORT We report a de novo unbalanced translocation involving chromosomes 15 and 21. The newborn was ...
متن کاملChromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers.
Male carriers of Robertsonian (Rob) translocations can have fertility problems associated with low sperm counts and abnormal sperm morphology. In this study, spermatozoa from 14 Rob translocation carriers, seven der(13;14), two der(13;15), two der(14;15), two der(14;21) and one der(21;22), were tested by fluorescence in-situ hybridization (FISH) for the chromosomes involved, to study meiotic se...
متن کاملCd branding studies in a homologous Robertsonian 13;13 translocation.
A phenotypically normal female with a history of two miscarriages was found to have the karyotype 45,XX,t(13p:13p). C banding showed the translocation to have two regions of centromeric constitutive heterochromatin, silver staining showed an active NOR in 60% of the cells screened, and Cd banding studies showed a single Cd band with absence of the Cd band at the suppressed centromere.
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ژورنال
عنوان ژورنال: Urologia Internationalis
سال: 1989
ISSN: 1423-0399,0042-1138
DOI: 10.1159/000281545