𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

✍ Scribed by Tiong Yang Tan; Agnes Bankier; Howard R. Slater; Emma L. Northrop; Margaret Zacharin; Ravi Savarirayan


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
151 KB
Volume
139A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Phenotypic features in a boy with monoso
✍ Jackson, Kelly E. ;Tsien, Fern ;Marble, Michael πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 334 KB πŸ‘ 1 views

We report on a patient with mosaicism for monosomy 18, a chromosomal abnormality that has been reported only once previously. The patient had cleft lip and palate and mild behavioral and academic problems. His phenotype was milder in comparison with the previously reported patient by Khalifa et al.

Atypical facial clefting in a patient wi
✍ Elaine Sbroggio de Oliveira Rodini; Ligiane Alves Machado-Paula; Siulan Vendrami πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 77 KB πŸ‘ 1 views
Atypical teratoid/rhabdoid tumor in a pa
✍ Eric M. Jackson; Tamim H. Shaikh; Fan Zhang; Luanne M. Wainwright; Phillip B. St πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 101 KB πŸ‘ 1 views

## Abstract Beckwith–Wiedemann syndrome (BWS) is a genetic disorder associated with an increased risk of childhood tumors. Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT). To our knowledge, despite the known cancer predisposition,