Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
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).
Archer
H L
HL
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom. archerhl@cardiff.ac.uk
Gupta
S
S
Enoch
S
S
Thompson
P
P
Rowbottom
A
A
Chua
I
I
Warren
S
S
Johnson
D
D
Ledbetter
D H
DH
Lese-Martin
C
C
Williams
P
P
Pilz
D T
DT
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