We report on three patients with duplication of distal 22s. One patient is a de novo carrier of the translocation t(21;22) (p13;qll), the other two are offspring of a translocation carrier t( 10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q)
Duplication of distal 17q: Report of an observation
β Scribed by Naccache, Nadyr F. ;Vianna-Morgante, Angela M. ;Richieri-Costa, A. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 307 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We report on a 20βmonthβold boy with duplication of the distal part of 19q. His karyotype is 46, XY, β22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. Thes
A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with