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GENATLAS PHENOTYPE

last update : 24/03/2010

Symbol	DEL14Q32
Location	14q32.2
Name	chromosome 14q32.2 microdeletion
Corresponding gene	DLK1
Main clinical features	clinical features compatible with uniparental disomy 14 (UPD14M)
Genetic determination
Prevalence	2 patients
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unrelated patients

Remark(s)

a recurrent microdeletion of the 14q32.2 imprinted gene cluster mediated by flanking (TGG)(n) repeats, identifying a novel mechanism of recurrent genomic rearrangement