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Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

✍ Scribed by Shapiro, Adam J.; Weck, Karen E.; Chao, Kay C.; Rosenfeld, Margaret; Nygren, Anders O.H.; Knowles, Michael R.; Leigh, Margaret W.; Zariwala, Maimoona A.

Book ID
126698051
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
677 KB
Volume
165
Category
Article
ISSN
1097-6833

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Characterization of a de novo complex ch
Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes
✍ Ascensión Vera-Carbonell; Juan Antonio Bafalliu; Encarna Guillén-Navarro; Ariadn 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

## 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