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Literature DB >> 2395159

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

J Goodship¹, S Malcolm, A Clarke, M E Pembrey.

Abstract

Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing the carrier state in this condition and the possibility of non-allelic heterogeneity are discussed.

Entities: Disease

Mesh：

Substances：

Year: 1990 PMID： 2395159 PMCID： PMC1017178 DOI： 10.1136/jmg.27.7.422

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

20 in total

1. Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).

Authors: K D MacDermot; R M Winter; S Malcolm
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

2. Rapp-Hodgkin ectodermal dysplasia.

Authors: H W Schroeder; V P Sybert
Journal: J Pediatr Date: 1987-01 Impact factor: 4.406

3. Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

Authors: P S Gerald; J A Brown
Journal: Cytogenet Cell Genet Date: 1974

4. Proceedings: An (Xq+; 9p-) translocation suggests the assignment of G6PD, HPRT, and PGK to the long arm of the X chromosome in somatic cell hybrids.

Authors: T B Show; J A Brown
Journal: Cytogenet Cell Genet Date: 1974

5. A survey of congenitally missing teeth, excluding third molars, in 6000 orthodontic patients.

Authors: J S Rose
Journal: Dent Pract Dent Rec Date: 1966-11

6. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.

Authors: A Clarke; M Sarfarazi; N S Thomas; K Roberts; P S Harper
Journal: Hum Genet Date: 1987-04 Impact factor: 4.132

7. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

Authors: S Kølvraa; T A Kruse; P K Jensen; K H Linde; S R Vestergaard; L Bolund
Journal: Hum Genet Date: 1986-11 Impact factor: 4.132

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

1. Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).

2. Rapp-Hodgkin ectodermal dysplasia.

3. Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

4. Proceedings: An (Xq+; 9p-) translocation suggests the assignment of G6PD, HPRT, and PGK to the long arm of the X chromosome in somatic cell hybrids.

5. A survey of congenitally missing teeth, excluding third molars, in 6000 orthodontic patients.

6. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.

7. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

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

9. Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

10. Rapp-Hodgkin ectodermal dysplasia syndrome.

1. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.