𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo interstitial duplication 4(q28.1q35) associated with choanal atresia

✍ Scribed by S Lin; EPE Kirk; F McKenzie; C Francis; C Shalhoub; AM Turner

Book ID
108954617
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
191 KB
Volume
40
Category
Article
ISSN
1034-4810

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

De novo interstitial tandem duplication
De novo interstitial tandem duplication of chromosome 4(q21-q28)
✍ Navarro, E. Guillen; Romero, M. C. Martinez; ExpΓ³sito, I. Lopez; Velasco, C. Men πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

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

Sotos syndrome associated with a de novo
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
✍ Imaizumi, Kiyoshi ;Kimura, Junko ;Matsuo, Mari ;Kurosawa, Kenji ;Masuno, Mitsuo πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 99 KB πŸ‘ 3 views

## Abstract We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:2