Ectodermal dysplasia in females and inversion of chromosome 9.

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Abstract
Absence of sweat glands, hypotrichosis, hypodontia, characteristic facial features and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia. Three males and 2 females were affected in a family in which the affected females were carrying a pericentric inversion of chromosome 9. Those phenotypically normal females in this pedigree who were obligate carriers had normal karyotypes. One of the affected females (the proband) had primary amenorrhoea, absence of the mammary glands and rudimentary internal genitalia. Since the clinical manifestations of ectodermal dysplasia in the carrier females of this family are only observed in those carrying a pericentric inversion of chromosome 9 in peripheral blood leukocytes, non-random inactivation of the paternal X chromosome apparently occurs due to the inversion.