Premium
Genetic counselling in hypomelanosis of Ito: case report and review
Author(s) -
Moss Celia,
Burn John
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02845.x
Subject(s) - incontinentia pigmenti , genetic counseling , dermatology , inheritance (genetic algorithm) , medicine , genetics , omim : online mendelian inheritance in man , pediatrics , gene , biology , phenotype
A 27‐year‐old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence risk. The limb defect is considered coincidental. The excess of girls with HI could be due to a female cohort with incontinentia pigmenti (IP) which may be indistinguishable: counselling of females must therefore take account of possible X‐linked inheritance.