Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism.
نویسندگان
چکیده
منابع مشابه
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...
متن کاملLipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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 کاملTrisomy 21 mosaicism in two successive generations in a family.
The occurrence of 46,XX/47,XX,+21 mosaicism in two successive generations implies an aetiological relationship between the 47,XX,+21 cell line of the mother and her daughter.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.4.286