Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
نویسندگان
چکیده
منابع مشابه
Trisomy 8 Mosaicism with Atypical Phenotypic Features
Mosaic trisomy 8 is a relatively common chromosomal abnormality, which shows a great variability in clinical expression, however cases with phenotypic abnormalities tend to present with a distinct, recognizable clinical syndrome with a characteristic facial appearance, a long, slender trunk, limitation of movement in multiple joints, and mild-to-moderate mental retardation; the deep plantar fur...
متن کاملConstitutional trisomy 8 mosaicism syndrome: case report and review.
Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our...
متن کاملA corneal abnormality associated with trisomy 8 mosaicism syndrome.
Eye abnormalities are a significant feature of trisomy 8 mosaicism syndrome. This paper gives the first account of the specific histopathology of a corneal opacity which is characteristic of this syndrome. The importance of early recognition is stressed because of potential therapeutic visual improvement. The necessity of including mosaic trisomy 8 in the differential diagnosis of such corneal ...
متن کاملRothmund-Thomson syndrome associated with trisomy 8 mosaicism.
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
متن کاملTrisomy 8 syndrome.
Clinical and dermatoglyphic data on a male patient with complete trisomy 8 are reported and compared with those of other known cases of trisomy 8. The more discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems.
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1998
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200212