Literature DB >> 3621656

Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

L A Cannizzaro, F Hecht.   

Abstract

Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

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Year:  1987        PMID: 3621656     DOI: 10.1111/j.1399-0004.1987.tb03326.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  16 in total

1.  X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors:  A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

Review 3.  Mapping dysmorphic syndromes with the aid of the human/mouse homology map.

Authors:  R P Erickson
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

Review 4.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

5.  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

6.  Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

Authors:  A P Read; D Donnai
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

7.  Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Authors:  A Sefiani; D Sinnett; L Abel; S Szpiro-Tapia; S Heuertz; I Craig; N Fraser; T A Kruse; M Frydman; M O Peter
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

Review 8.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

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

Authors:  E Steichen-Gersdorf; R Trawöger; H C Duba; U Mayr; S Felber; G Utermann
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

10.  Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

Authors:  C Hydén-Granskog; R Salonen; H von Koskull
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

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