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We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in p11.2 on both involved chromosomes. The patient had another normal Y chromosome. This is a third report the presence of a chromosome 18p deletion (and first case of a translocation involving 18p and a sex chromosome) with this genodermatosis. Our data suggest that the short arm of chromosome 18 is a candidate region for a gene causing keratosis pilaris. Unmasking of a recessive mutation at the disease locus by deletion of the wild type allele could be the cause of the recessive genodermatosis.
S A Nazarenko, and
N V Ostroverkhova, and
E O Vasiljeva, and
L P Nazarenko, and
V P Puzyrev, and
P Malet, and
T A Nemtseva
June 1994,
Pediatric dermatology,
S A Nazarenko, and
N V Ostroverkhova, and
E O Vasiljeva, and
L P Nazarenko, and
V P Puzyrev, and
P Malet, and
T A Nemtseva
November 1952,
A.M.A. archives of dermatology and syphilology,
S A Nazarenko, and
N V Ostroverkhova, and
E O Vasiljeva, and
L P Nazarenko, and
V P Puzyrev, and
P Malet, and
T A Nemtseva
January 2002,
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S A Nazarenko, and
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E O Vasiljeva, and
L P Nazarenko, and
V P Puzyrev, and
P Malet, and
T A Nemtseva
May 2014,
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S A Nazarenko, and
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S A Nazarenko, and
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T A Nemtseva
August 2018,
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S A Nazarenko, and
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T A Nemtseva
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S A Nazarenko, and
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T A Nemtseva
November 1949,
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S A Nazarenko, and
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T A Nemtseva
January 2011,
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S A Nazarenko, and
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T A Nemtseva
December 2021,
Archivos argentinos de pediatria,
