Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry

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Bibliographic Details
Published in:Journal of medical genetics 2000-10, Vol.37 (10), p.804-807
Main Authors: SCHMIDT, HEINRICH, UHRIG, SABINE, LEDERER, GABY, MURKEN, JAN, SPEICHER, MICHAEL R, SCHUFFENHAUER, SIMONE
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Child
Child, Preschool
Chromosome Banding
Chromosome Breakage - genetics
Chromosome Deletion
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 7 - genetics
Female
Fibroblasts
Gene Duplication
Genetic Heterogeneity
Genotype
Humans
Hypopigmentation - genetics
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Intellectual Disability - genetics
Karyotyping
Letters to the Editor
Lymphocytes
Male
Mosaicism - genetics
Phenotype
Trisomy - genetics
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Summary:
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.10.804