Article Abstract:
Cyclic ichthyosis with epidermolytic hyperkeratosis is a phenotype that results from mutations in the keratin K1 2B domain. Four persons from two families with a unique clinical disorder with histological findings of epidermolytic hyperkeratosis are described. At birth they manifested erythema and superficial erosions. They improved during the next few months and later developed palmoplantar hyperkeratosis with scale and patchy erythema. A clinical phenotype different from classic bullous congential ichthyosiform erythroderma (BCIE), but with similar histology, can be the result of K1 mutations.
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Article Abstract:
The putative sex-determining gene appears to be located on chromosome 9 in the extreme terminal region of the short arm. Cytogenic and molecular analyses of four sex-reversed XY females point to a smallest region of overlap (SRO) of deletions on a very small part of distal band 9p24, distal to marker D9S1779. Seventeen highly polymorphic satellite markers were used in loss-of-heterozygosity studies, in addition to FISH with YAC clones that correspond to the most distal markers on 9p.
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Article Abstract:
Turner syndrome, a complex human phenotype associated with complete or partial monosomy X, is discussed. A locus or loci for this syndrome likely exists at Xp11.2-p22.1 and results of the study of 28 apparently nonmosaic subjects with partial deletion of Xp can be used for genetic counseling of those with partial monosomy X.
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