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GENATLAS PHENOTYPE

last update : 07-09-2011

Symbol	DEL5Q31.1
Location	5q31.1
Name	chromosome 5q31 deletions
Corresponding gene	PITX1
Main clinical features	DD, short stature, club feet, cleft or high palate, dysmorphic features, and skeletal anomalies, PMID: 21744490
Genetic determination	chromosomal
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion		PMID: 21744490, three individuals with deletions and two individuals with duplications at 5q31.1, ranging from 3.6 Mb to 8.1 Mb and 830 kb to 3.4 Mb in size, respectively

Remark(s)