Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.
Uniparental disomy (UPD) is a condition in which diploid individuals possess a chromosome pair from a single parent. In some instances, UPD causes an abnormal phenotype due to imprinting effects, reduction to homozygosity at recessive disease loci, or trisomy mosaicism. Here we report the first account of an individual with apparently nonmosaic complete maternal isodisomy of chromosome 8. This individual was identified during routine genotyping in a genomewide search for type 2 diabetes susceptibility genes, although he does not have diabetes. He is of normal appearance, stature, and intelligence, but there is an unusual history of early onset ileal carcinoid. The discovery of other maternal UPD 8 cases will be necessary to define whether this condition causes a distinct phenotype.
Positional Cloning Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Z E
ZE
Karanjawala
H
H
Kääriäinen
S
S
Ghosh
J
J
Tannenbaum
C
C
Martin
D
D
Ally
J
J
Tuomilehto
T
T
Valle
F S
FS
Collins
D000328:Adult; D002276:Carcinoid Tumor / Q000235:genetics*; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D007078:Ileal Neoplasms / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D010641:Phenotype