A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig
نویسندگان
چکیده
منابع مشابه
De novo translocation heterozygote with three reciprocal translocations.
An extremely rare case of a child with three balanced reciprocal translocations involving six different autosomes is described. These abnormalities have apparently arisen de novo and seem to have only relatively minor phenotypic effects. The meiotic possibilities are discussed and cytogenetic markers suggest that the damage may have occurred in a paternal gamete.
متن کاملDiamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakp...
متن کاملA de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure
Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl ...
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ژورنال
عنوان ژورنال: Reproduction in Domestic Animals
سال: 2020
ISSN: 0936-6768,1439-0531
DOI: 10.1111/rda.13664