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Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

✍ Scribed by Ascensión Vera-Carbonell; Juan Antonio Bafalliu; Encarna Guillén-Navarro; Ariadna Escalona; María J. Ballesta-Martínez; Carme Fuster; Asunción Fernández; Isabel López-Expósito

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
378 KB
Volume
149A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri‐du‐chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1‐p14.2, a deletion of 5p14.2‐pter, and a duplication of 5p12, characterized by array‐CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley‐Liss, Inc.

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Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome
✍ Sreekantaiah, C.; Kronn, D.; Marinescu, R.C.; Goldin, B.; Overhauser, J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted duplication