Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients

Béatrice Plougastel; Philippe Couillin; Véronique Blanquet; Eric Le Guern; Egbert Bakker; Catherine Turleau; Jean de Grouchy; Nicole Créau-Goldberg

doi:10.1016/S0888-7543(05)80259-9

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients

Béatrice Plougastel, Philippe Couillin, Véronique Blanquet, Eric Le Guern, Egbert Bakker, Catherine Turleau, Jean de Grouchy, Nicole Créau-Goldberg

Division of Rheumatology

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

Original language	English
Pages (from-to)	523-525
Number of pages	3
Journal	Genomics
Volume	14
Issue number	2
DOIs	https://doi.org/10.1016/S0888-7543(05)80259-9
State	Published - Oct 1992

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title = "Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients",

abstract = "Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.",

author = "B{\'e}atrice Plougastel and Philippe Couillin and V{\'e}ronique Blanquet and Guern, {Eric Le} and Egbert Bakker and Catherine Turleau and {de Grouchy}, Jean and Nicole Cr{\'e}au-Goldberg",

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T1 - Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients

AU - Plougastel, Béatrice

AU - Couillin, Philippe

AU - Blanquet, Véronique

AU - Guern, Eric Le

AU - Bakker, Egbert

AU - Turleau, Catherine

AU - de Grouchy, Jean

AU - Créau-Goldberg, Nicole

PY - 1992/10

Y1 - 1992/10

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AB - Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

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AN - SCOPUS:0026471837

SN - 0888-7543

VL - 14

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EP - 525

JO - Genomics

JF - Genomics

IS - 2

ER -

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients

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