115: TRISOMY 22 MOSAICISM LIMITED TO SKIN FIBROBLASTS IN A MENTALLY RETARDED, DYSMORPHIC GIRL
نویسندگان
چکیده
منابع مشابه
Trisomy 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 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.
We present the case of a mentally normal 7 year old girl with short stature, scoliosis, atrial septal defect, and dysmorphic features including linear pigmented streaks on the forearms and lower legs. Chromosome analysis of cultured fibroblasts showed trisomy 12 in 9% and 13% of cells from two skin biopsies. Two trisomy 12 cells were found in lymphocytes after analysis of 500 metaphases. Her cl...
متن کاملStable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl.
A dicentric autosome, tdic(8:22)(p23:p13), was found in all metaphase cells examined from the peripheral blood of a mentally retarded girl. It is suggested that the centromere of chromosome 22 was inactive, allowing the dicentric to behave as a monocentric element. The involvement of acrocentric chromosomes in the stable dicentric autosomes of man is discussed.
متن کاملChromosome mosaicism in a mentally retarded mother and her daughter.
Mosaicism for a chromosome of group G (21-22) has been described in many patients with typical Down's syndrome (Clarke, Edwards, and Smallpeice, 1961; Blank, Gemmell, Casey, and Lord, 1962; Smith, Therman, Patau, and Inhorn, 1962; Nichols, Coriell, Fabrizio, Bishop, and Bogg, 1962; Weinstein and Warkany, 1963; Lindsten, Alvin, Gustavson, and Fraccaro, 1962; Hayashi, Hsu, and Chao, 1962) and in ...
متن کاملTrisomy 14 mosaicism in a 2 year old girl.
Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD. These findings are consistent with the previously reported cases of trisomy 14 mosaicism and support the suggested existence of a distin...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1988
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198808000-00140