Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.
نویسندگان
چکیده
منابع مشابه
RECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
متن کاملTrisomy 22 and intersex.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
متن کاملreconsideration of the cat eye syndrome: reciprocal translocation t(1l,22) leading to partial trisomy of llq and 22.
we are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. we emphasize the importance of family study in such cases.
متن کاملUnilateral radial aplasia and trisomy 22 mosaicism.
A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.6.501