𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

✍ Scribed by Maria Descartes; Julie Zenger Hain; Michael Conklin; Judy Franklin; Fady M. Mikhail; Ralph S. Lachman; Serge Nolet; Ludwine M. Messiaen


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
198 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Longitudinal observation of a patient wi
✍ Lilia Moreira; Albert Schinzel; Alessandra Baumer; Paula Pinto; FΓ‘tima GΓ³es; Mar πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 238 KB πŸ‘ 1 views

## Abstract Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene __PIT X2__ (former __RIE

Monosomy 18q syndrome and atypical Rett
✍ Gustavsson, Peter; Kimber, Eva; WahlstrοΏ½m, Jan; AnnerοΏ½n, GοΏ½ran πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 3 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin