Prenatal detection of trisomy for the entire long arm of chromosome 7
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چکیده
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15 صفحه اولTrisomy of the short arm of chromosome 10.
A case of a fetus with multiple malformations is described. The mother showed a 46,XX,rcp(10;22) (p11;p11) karyotype. Amniocentesis at the 16th week of gestation revealed that the male fetus had a der(22) chromosome--that is, he was trisomic for a large part of 10p (10pter leads to 10p11). Clinical findings of cases with 10p, 10q, and mosaic 10 trisomies are briefly reviewed.
متن کاملFamilial partial trisomy of the long arm of chromosome 3 (3q).
A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnor...
متن کاملFamilial partial trisomy of the long arm of chromosome 3 ( 3 q ) CLAUDINE FEAR
The propositus (Fig. 1) was the result of a 3rd pregnancy of the mother; she had had 2 phenotypically normal children from a previous marriage. The pregnancy was noted for small fetal size, lack of intrauterine movements, and recurrent small antipartum haemorrhages. Urinary oestriol excretion was low throughout the pregnancy. The child was delivered by emergency caesarean section when the mothe...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.7.551