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A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain [PDF]
Clinical Case Reports (discontinued), 2015 We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1‐q15.
Mariela Resches, Angel Carracedo
exaly +2 more sources
American Journal of Medical Genetics, Part A, 2008 International audienceInterstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature. The phenotype may include facial dysmorphism, developmental delay, ectodermal abnormalities, cardiac and ...
Stanislas Lyonnet +2 more
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Mapping of gene loci in the Q13?Q15 region of chromosome 12
Chromosome Research, 1995J Heighway, E L Mitchell, J M Varley
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t(6;14)(q15;q32) in a Patient with CD5+CD10+ Diffuse Large B-Cell Lymphoma
International Journal of Hematology, 2007Masaaki Higashihara +2 more
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DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2‐q15
Clinical Genetics, 2009Ali Muhammad Waryah +2 more
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