Literature DB >> 3876069

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

S Gilgenkrantz, P Tridon, N Pinel-Briquel, J Beurey, M Weber.   

Abstract

A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.

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Year:  1985        PMID: 3876069

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  22 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

Review 2.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

Authors:  T L Yang-Feng; L J DeGennaro; U Francke
Journal:  Proc Natl Acad Sci U S A       Date:  1986-11       Impact factor: 11.205

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

Authors:  L S Correa-Cerro; H Rivera; A I Vasquez
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

6.  Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Authors:  B R Migeon; J Axelman; S Jan de Beur; D Valle; G A Mitchell; K N Rosenbaum
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

7.  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

8.  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

9.  Tentative assignment of hypomelanosis of Ito to 9q33----qter.

Authors:  R Happle
Journal:  Hum Genet       Date:  1987-01       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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