Literature DB >> 3876068

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.

J de Grouchy, C Turleau, M Doussau de Bazignan, P Maroteaux, D Thibaud.   

Abstract

A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.

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Mesh：

Year:  1985        PMID： 3876068

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


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

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

3.  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

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Three patients with ring (X) chromosomes and a severe phenotype.

Authors:  N R Dennis; A L Collins; J A Crolla; A E Cockwell; A M Fisher; P A Jacobs
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

Review 6.  Incontinentia pigmenti nomenclature.

Authors:  V P Sybert
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

7.  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

Review 8.  Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

Authors:  D J Wolff; C J Brown; S Schwartz; A M Duncan; U Surti; H F Willard
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

9.  Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Authors:  J A Crolla; S Gilgenkrantz; J de Grouchy; T Kajii; M Bobrow
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

10.  Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

Authors:  C Turleau; F Taillard; M Doussau de Bazignan; N Delépine; J C Desbois; J de Grouchy
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132
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