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GENATLAS PHENOTYPE

last update : 15/01/07

Symbol	DELXPM
Location	Xp22.2-pter
Name	chromosome Xp terminal deletion in males
Other name(s)	monosomy Xpter
Corresponding gene	SHOX , STS , KAL1 , GPR143 , ARSE
Main clinical features	variable contiguous gene syndrome including manifestations of Leri-Weill syndrome, chondrodysplasia punctata, mental retardation, ichthyosis, Kallmann syndrome, and ocular albinism
Genetic determination	chromosomal
Function/system disorder	multisystem/generalized
Type	MCA/MR

Gene product

Name	contiguous gene syndromes

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	the extent of terminal Xp deletions viable in males is limited by the position of male lethal genes in Xp22.2 at about 10-11 Mb from the telomere

Remark(s)