𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


De novo interstitial tandem duplication
✍ Navarro, E. Guillen; Romero, M. C. Martinez; Expósito, I. Lopez; Velasco, C. Men 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 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

Pseudoachondroplasia with de novo deleti
✍ Ikegawa, Shiro; Ohashi, Hirofumi; Hosoda, Fumie; Fukushima, Yoshimitsu; Ohki, Mi 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix

Molecular cytogenetic analysis of a de n
✍ Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Andreas Knoblauch; Holger 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 2 views

## 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].