𝔖 Bobbio Scriptorium
✦   LIBER   ✦

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications

✍ Scribed by Gentile, M. ;Di Carlo, A. ;Volpe, P. ;Pansini, A. ;Nanna, P. ;Valenzano, M.C. ;Buonadonna, A.L.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
140 KB
Volume
117A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Supernumerary ring chromosome 8: Clinica
✍ Demori, Eliana ;Devescovi, Raffaella ;Benussi, Daniela Gambel ;Dolce, Silvia ;Ca πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 154 KB πŸ‘ 1 views

## Abstract We report on a 3‐year‐old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centro

Small terminal deletion of 1p and duplic
✍ Fan, Yao-Shan; Jung, Jack; Hamilton, Brenda πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 32 KB πŸ‘ 2 views

A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-ban

Cytogenetic and clinical findings in a p
✍ Monaghan, Kristin G.; van Dyke, Daniel L.; Wiktor, Anne; Feldman, Gerald L. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 121 KB

The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of patients reported with 16q-syndrome and compared them to our patient, a 4 1 ⁄2-yearold boy wi