منابع مشابه
Familial translocation t(9;16).
We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,-9,+der(9),t(9;16)(p24;q13)]. Parental chromosome analysis showed a balanced maternal translocation [46,XX,t(9;16)(p24;q13)]. Three other cases of translocations involving chromosomes 9 and 16 have been reported, one of them with identical breakpoints. A review of published reports of deletion 9p and duplication ...
متن کاملClinical manifestations of familial 13;18 translocation.
Female first cousins, aged 21 and 2 1/2 years, with many of the characteristic features of trisomy 18, were found to have identical unbalanced translocations, 46,XX,--13, + der(13)t(13;18) (p13;q12)mat. Clinical features of another cousin, two uncles, and an aunt suggested that they, too, had a partial trisomy 18 phenotype. The long survival and normal menstrual and secondary sexual development...
متن کاملFamilial half cryptic translocation t(9;17).
A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p o...
متن کاملTranslocation and trisomic Down's syndrome in a family with a familial D-G translocation.
The reports on familial Down's syndrome (mongolism) date in the medical literature from the 20th years of this century. Familial Down's syndrome is now well-described event but relatively rare. Penrose states that pairs of affected sibs appear about once for every 100 single cases of mongolism collected at random (quoted by Soltan et al. 1964). About two-thirds of the mongoloids are close relat...
متن کاملFamilial transmission of a chromosomal translocation t(2q+;Cp-).
Reciprocal translocations involving duplications of different regions of chromosomes of group C have been reported in patients with multiple congenital malformations. Some of these cases died at 2 or 3 months of age (de Grouchy et al., 1967a, b; Gray et al., 1966). Others were discovered at ages ranging from 12 months to 12 years (Edwards et al., 1962; Rohde and Catz, 1964; de Grouchy and Canet...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.8.525