title: Deletion of chromosome 1p: a short review.
abstract: A further patient with a deletion of 1p is described, bringing the number of reported cases to 13. The cytogenetic derivation of the deletions and the clinical phenotype are reviewed. The range of breakpoints and small number of cases result in no clearly defined phenotype. Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high-arched palate, in particular, seen in deletions distal to p34.
authors.affiliation: Regional Cytogenetics Unit, Royal Liverpool Hospital, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Howard
authors.forename: M
authors.initials: M
authors.lastname: Porteus
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D003456:Cryptorchidism / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male