𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases

✍ Scribed by Schimmenti, Lisa A. ;Higgins, Rodney R. ;Mendelsohn, Nancy J. ;Casey, Timothy M. ;Steinberger, Julia ;Mammel, Mark C. ;Wiesner, Georgia L.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
442 KB
Volume
57
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Two infants with del(3)(p25pter) and a r
✍ Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 476 KB 👁 2 views

Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.

Breakpoint mapping in a case of mosaicis
✍ Leslie D. Kulikowski; Laurie A. Christ; Sintia I. Nogueira; Decio Brunoni; Stuar 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 2 views

## Abstract We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high‐resolution GTG banding and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromo

Trisomy 7p resulting from 7p15;9p24 tran
✍ Kozma, Chahira; Haddad, Bassem R.; Meck, Jeanne M. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

The authors report on a young girl with generalized developmental deficits originally thought to be caused by an unusual reaction to DPT vaccination. At the age of 4(1/2) years, chromosome analysis showed that the terminus of the short arm of chromosome 9 had extra material believed to originate fro

A case of presumptive monosomy 21 re-dia
✍ Iqbal, M. Anwar; Ahmed, Mohammed Zein Seid; Wu, David; Sakati, Nadia 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB

By using fluorescence in situ hybridization (FISH), we demonstrate a case of monosomy 21 to result from an unbalanced translocation involving the short arm of chromosome 5 and the long arm of chromosome 21. Our case is compared to 3 similar cases of t(5p;21q) reported recently, which were also origi