Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient-Reference-Cited by-同舟云学术

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

Published:2009-07 Issue:4 Volume:52 Page:218-223
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ballarati Lucia,Recalcati Maria Paola,Bedeschi Maria Francesca,Lalatta Faustina,Valtorta Chiara,Bellini Melissa,Finelli Palma,Larizza Lidia,Giardino Daniela

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

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3. Delineation of complex chromosomal rearrangements: evidence for increased complexity;Astbury;Hum. Genet.,2004

4. Detection of deletions in de novo “balanced” chromosome rearrangements: further evidence for their role in phenotypic abnormalities;Astbury;Genet. Med.,2004

5. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases;Batista;Am. J. Med. Genet.,1994

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1. Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement;Journal of Genetics;2021-09-16

2. Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5;American Journal of Medical Genetics Part A;2020-09-25

3. Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly;American Journal of Medical Genetics Part A;2020-04-24

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5. Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16;Gazi Medical Journal;2018-07-01