FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

Author:

Catrinel Marinescu R,Johnson Elizabeth I,Grady Deborah,Chen Xiao-Ning,Overhauser Joan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Trois cas de deletion partielle du bras court d'un chromosome 5;Lejeune;CR Acad Sci,1963

2. Cytologic observations in 35 individuals with a 5p- karyotype;Niebuhr;Hum Genet,1978

3. The cri-du-chat syndrome: epidemiology, cytogenetics, and clinical features;Niebuhr;Hum Genet,1978

4. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome;Goodart;Genomics,1994

5. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions;Gersh;Am J Hum Genet,1995

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1. Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry;Molecular Genetics & Genomic Medicine;2019-09-30

2. Cri-Du-Chat Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

3. Cri-Du-Chat Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

4. Cri-Du-Chat Syndrome;Atlas of Genetic Diagnosis and Counseling;2012

5. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion;Clinical Genetics;2008-04-09

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