Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features-Reference-Cited by-同舟云学术

Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

Published:2016-01 Issue:1 Volume:59 Page:39-42
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Silipigni Rosamaria,Cattaneo Elisa,Baccarin Marco,Fumagalli Monica,Bedeschi Maria Francesca

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

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2. Segmental haplosufficiency; transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences;Barber;Eur. J. Hum. Genet.,2005

3. Database of Human CNVs. A Tool to Compare CNVs Identified in Patients with ID Hosted by IRCCS OASI Maria SS. Troina (http://gvarianti.homelinux.net/gvariantib37/index.php).

4. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray;Fan;Mol. Cytogenet.,2013

5. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin;Lacbawan;Am. J. Med. Genet.,1999

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1. Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome;Genes;2023-12-16

2. A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism;Neurology Genetics;2021-11-19

3. An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report;SAGE Open Medical Case Reports;2017-01-01

4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017