Presentation is loading. Please wait.

Presentation is loading. Please wait.

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13  Alice Krebsová, Henning Hamm, Susanne.

Published byEmerald Lyons Modified over 5 years ago

Similar presentations

Presentation on theme: "Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13  Alice Krebsová, Henning Hamm, Susanne."— Presentation transcript:

1 Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13  Alice Krebsová, Henning Hamm, Susanne Karl, André Reis, Hans Christian Hennies  Journal of Investigative Dermatology  Volume 115, Issue 4, Pages (October 2000) DOI: /j x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features of ICND. (a) ICND in a 9 y old girl. All fingernails of the left hand show thinning and longitudinal streaks. Some lunulae are poorly developed. (b) ICND in a 7 y old boy. The nail plates of the thumbs are striated and seem to broaden distally by overgrowing the lateral nail folds. (c) ICND in a 15 y old male. A marked longitudinal ridge arises from a small reddish dome-shaped prominence adjacent to the proximal nail fold and turns in a notch of the free nail margin. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Pedigree of the investigated ICND family and construction of haplotypes. (a) Complete pedigree. The filled symbols indicate individuals affected by ICND. The high number of affected females and males in all generations shows an autosomal dominant mode of inheritance with full penetrance. (b) Excerpts from the pedigree with corresponding haplotypes showing the decisive recombination events. The black bar represents the affected haplotype that was found in all affected family members. A change of filled bar to open bar indicates a recombination event. Recombination events determining the ICND interval were identified in individuals 10, 34, and 37. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Localization of the ICND gene. The 6 cM interval containing the ICND gene on chromosome 17p13 is flanked by the markers at D17S926 and D17S1528. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13  Alice Krebsová, Henning Hamm, Susanne."

Similar presentations

Inheritance of Traits: Pedigrees

Inheritance of Traits: Pedigrees
Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld.

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld.
Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13  Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,

Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13  Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21  Wendy Balemans, Jenneke Van Den Ende, Auristela.

Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21  Wendy Balemans, Jenneke Van Den Ende, Auristela.
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,
Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 
C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J

C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J
Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.
L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C

L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C
A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21

A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21
RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin.

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin.
A. Vanita, Jai Rup Singh, Virinder K

A. Vanita, Jai Rup Singh, Virinder K
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Tamara Rogers, David Chandler, Dora Angelicheva, P. K

Tamara Rogers, David Chandler, Dora Angelicheva, P. K
Clinical Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology
Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region
Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 

Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 
Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3  Min Gao, Pei-Guang Wang, Yong Cui,

Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3  Min Gao, Pei-Guang Wang, Yong Cui,

Similar presentations

Ads by Google