TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

2014 ◽  
Vol 164 (3) ◽  
pp. 828-833 ◽  
Author(s):  
Orazio Palumbo ◽  
Marco Fichera ◽  
Pietro Palumbo ◽  
Renata Rizzo ◽  
Elisabetta Mazzolla ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Interstitial Deletion

scholarly journals Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants

scholarly journals An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Trupti Kale ◽  
Melissa Philip
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Facial Features ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Phenotypic Profile ◽  
Concise Review ◽  
Phenotypic Variations ◽  
Primary Focus

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

scholarly journals CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

2011 ◽  
Vol 17 (1) ◽  
pp. 4-7 ◽  
Author(s):  
I Voineagu ◽  
L Huang ◽  
K Winden ◽  
M Lazaro ◽  
E Haan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene
Sign in / Sign up

Export Citation Format

Share Document