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Literature DB >> 9039996

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

L S Correa-Cerro¹, H Rivera, A I Vasquez.

Abstract

We report on a 16 month old girl with hypomelanosis of Ito and a balanced de novo (X;13)(q10;q10) translocation in which the der(Xp13q) had the X centromere (as assessed by FISH with the DXZ3 probe). A functional Xp disomy was shown in a small proportion of cultured lymphocytes by means of a BrdU terminal pulse. This observation supports the notion of a distinct form of hypomelanosis of Ito resulting from a functional Xp disomy.

Entities: Disease Species

Mesh：

Year: 1997 PMID： 9039996 PMCID： PMC1050873 DOI： 10.1136/jmg.34.2.161

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

13 in total

1. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors: E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal: J Med Genet Date: 1996-03 Impact factor: 6.318

2. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

Authors: V P Sybert; R A Pagon; M Donlan; C M Bradley
Journal: J Pediatr Date: 1990-04 Impact factor: 4.406

3. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature.

Authors: J E Jelinek; R S Bart; S M Schiff
Journal: Arch Dermatol Date: 1973-04

4. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

Authors: S Gilgenkrantz; P Tridon; N Pinel-Briquel; J Beurey; M Weber
Journal: Ann Genet Date: 1985

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

1. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

2. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

3. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature.

4. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

5. Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17).

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

7. Hypomelanosis of Ito: spectrum of the disease.

Review 8. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

9. Chromosome mosaicism in hypomelanosis of Ito.

10. Hypomelanosis of Ito associated with chromosomal translocation involving Xp11.

Review 1. Pigmentary mosaicism: a review of original literature and recommendations for future handling.