title: Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
abstract: A very short, microcephalic, and mentally retarded 2 year old girl showed minor anomalies including prominent occiput, delayed closure of the anterior fontanelle, high frontal hairline, prominent ears, upward slanting palpebral fissures, a small nose with bulbous tip, delayed tooth eruption and bone maturation, and short and tapering fingers and toes. She did not have a white forelock. Cytogenetic investigation disclosed a de novo unbalanced translocation between chromosomes 4 and 18 with deletion of 4q12-->q21.1. Molecular investigation showed lack of a paternal allele for the microsatellite markers D4S392 and D4S398. This case shows indirect evidence that the piebald gene maps to proximal 4q12.
authors.affiliation: Institute of Medical Genetics, University of Zürich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: C P
authors.initials: CP
authors.lastname: Braegger
authors.forename: L
authors.initials: L
authors.lastname: Brecevic
authors.forename: F
authors.initials: F
authors.lastname: Dutly
authors.forename: F
authors.initials: F
authors.lastname: Binkert
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics*; D014178:Translocation, Genetic