Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.
aSheffield Clinical Genetics Service bSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Rhoda S
RS
Akilapa
Kath
K
Smith
Meena
M
Balasubramanian
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D056915:DNA Copy Number Variations; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion