We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, hi
De novo interstitial deletion q16.2q21 on chromosome 6
✍ Scribed by Villa, Amelia ;Urioste, Miguel ;Bofarull, Josep M. ;Martínez-Frías, María-Luisa
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 437 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12‐year‐old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].