Two cases of X/autosome translocation in females with incontinentia pigmenti

We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these...

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Bibliographic Details
Published in:Human genetics 1985-11, Vol.71 (3), p.231-234
Main Authors: HODGSON, S. V, NEVILLE, B, JONES, R. W. A, FEAR, C, BOBROW, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, 16-18
Chromosomes, Human, 6-12 and X
Dermatology
Female
Humans
Karyotyping
Medical sciences
Pigmentary diseases of the skin
Pigmentation Disorders - genetics
Translocation, Genetic
X Chromosome
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Summary:We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00284581