title: Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
abstract: Telomeres are gene rich regions with a high recombination rate. Cryptic subtelomeric rearrangements are estimated to account for 5% of mental retardation/malformation syndromes. Here we present the first patient with a deletion of 19p13.3, identified by subtelomeric FISH analysis. His features included a distinctive facial appearance, cleft palate, hearing impairment, congenital heart malformation, keloid scarring, immune dysregulation, and mild learning difficulties. Subtelomeric FISH analysis identified a deletion of 19p13.3-pter. The deletion size was determined to be 1.2 Mb by FISH analysis. It extended from within the chromosomal region covered by BAC RP11-50C6 to 19pter. The deleted area encompassed approximately 60 genes. Fifteen possible candidate genes were considered with respect to the phenotype, including follistatin-related precursor 3 (FSTL3) and serine-threonine kinase 11 (STK-11).
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom. archerhl@cardiff.ac.uk
authors.forename: H L
authors.initials: HL
authors.lastname: Archer
authors.forename: S
authors.initials: S
authors.lastname: Gupta
authors.forename: S
authors.initials: S
authors.lastname: Enoch
authors.forename: P
authors.initials: P
authors.lastname: Thompson
authors.forename: A
authors.initials: A
authors.lastname: Rowbottom
authors.forename: I
authors.initials: I
authors.lastname: Chua
authors.forename: S
authors.initials: S
authors.lastname: Warren
authors.forename: D
authors.initials: D
authors.lastname: Johnson
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: C
authors.initials: C
authors.lastname: Lese-Martin
authors.forename: P
authors.initials: P
authors.lastname: Williams
authors.forename: D T
authors.initials: DT
authors.lastname: Pilz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology; D005145:Face / Q000002:abnormalities; D020022:Genetic Predisposition to Disease / Q000235:genetics; D034381:Hearing Loss / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007107:Immune System / Q000002:abnormalities; D017404:In Situ Hybridization, Fluorescence; D007627:Keloid / Q000473:pathology; D007859:Learning Disabilities / Q000473:pathology; D008297:Male; D010641:Phenotype; D016615:Telomere / Q000235:genetics