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X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males
Author(s) -
Edwards Matthew,
Mulcahy Des,
Turner Gillian
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.tb02886.x
Subject(s) - heterozygote advantage , autosomal recessive inheritance , inheritance (genetic algorithm) , genetics , x linked recessive inheritance , biology , medicine , pediatrics , gene , allele , x chromosome
We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X‐linked recessive inheritance and survival of affected males which has not previously been reported. Four affected males in three generations have survived into infancy and two female heterozygotes have very mild expression. Foetal ultrasonography enabled antenatal diagnosis.