Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
Schmidt
H
H
Uhrig
S
S
Lederer
G
G
Murken
J
J
Speicher
M R
MR
Schuffenhauer
S
S
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics; D002872:Chromosome Deletion; D018244:Chromosomes, Artificial, Yeast; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D020440:Gene Duplication; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*