Fuenmayor H M, Roldan-París L, Bermúdez H
J Med Genet. 1981 Jun;18(3):214-7. doi: 10.1136/jmg.18.3.214.
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 two females were affected in a family in which the affected females were also 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, in addition, primary amenorrhoea, absence of the mammary glands, and rudimentary internal genitalia. The fact that clinical manifestations of ectodermal dysplasia in the carrier females of this family are only observed in those also carrying a pericentric inversion of chromosome 9 in peripheral blood leucocytes perhaps suggests that non-random inactivation of the paternal X chromosome has occurred as a consequence of the inversion.
无汗腺、毛发稀少、牙齿发育不全、特征性面部容貌以及不耐热，而无指甲营养不良，是X连锁少汗性外胚层发育不良的表现。一个家族中有3名男性和2名女性患病，其中患病女性还携带9号染色体的臂间倒位。该家系中那些表型正常的女性，她们必然是携带者，其核型正常。其中一名患病女性（先证者）还伴有原发性闭经、无乳腺以及内生殖器发育不全。该家族中携带者女性的外胚层发育不良临床表现仅在那些外周血白细胞中也携带9号染色体臂间倒位的女性中观察到，这或许表明由于倒位导致了父源X染色体的非随机失活。
