title: Two cases of interstitial deletion 1p.
abstract: We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.
authors.affiliation: SE Thames Regional Genetic Centre, Guy's Hospital, London.
authors.forename: M M
authors.initials: MM
authors.lastname: Lai
authors.forename: M F
authors.initials: MF
authors.lastname: Robards
authors.forename: A C
authors.initials: AC
authors.lastname: Berry
authors.forename: C N
authors.initials: CN
authors.lastname: Fear
authors.forename: C
authors.initials: C
authors.lastname: Hart
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002878:Chromosomes, Human, Pair 1; D005149:Facial Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007593:Joint Instability / Q000235:genetics; D008297:Male