𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

✍ Scribed by Stevenson, David A. ;Brothman, Arthur R. ;Chen, Zhong ;Bayrak-Toydemir, Pinar ;Longo, Nicola

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
145 KB
Volume
130A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

First confirmed case with paternal unipa
First confirmed case with paternal uniparental disomy of chromosome 16
✍ Kohlhase, JοΏ½rgen; Janssen, Bart; Weidenauer, Karin; Harms, Karsten; Bartels, Iri πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

The existence of paternal uniparental disomy of chromosome 16 [upd( 16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomi

Angelman syndrome due to paternal unipar
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
✍ Bottani, A. ;Robinson, W. P. ;Delozier-Blanchet, C. D. ;Engel, E. ;Morris, M. A. πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 604 KB

## Abstract The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age‐dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the cr

Paternal uniparental disomy of chromosom
Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome
✍ Dr Robert D. Nicholls; G. Shashidhar Pai; Wayne Gottlieb; Eduardo S. CantΓΊ πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 820 KB

## Abstract Angelman and Prader‐Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11‐q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either synd