Paternal UPD14 is responsible for a distinctive malformation complex.
We present a boy and two girls with paternal uniparental disomy of chromosome 14q (patUPD14). One girl had a Robertsonian translocation, whereas two a normal karyotype. Based on the manifestations of these patients and four previously reported patients who all had translocated chromosome 14, The patUPD14 was thought to constitute a distinctive syndrome. The hallmarks included abdominal muscular defects, skeletal anomalies, and characteristic facies. The phenotype of patUPD14 was consistent with that of a previously reported mouse model, i.e., mouse embryos with paternal uniparental disomy of chromosome 12 that has a region orthologous to that of human chromosome 14. Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex.
Kurosawa
Kenji
K
Kanagawa Children's Medical Center, Yokohama, Japan.
Sasaki
Hiroyuki
H
Sato
Yoshiaki
Y
Yamanaka
Michiko
M
Shimizu
Mitsumasa
M
Ito
Yuji
Y
Okuyama
Torayuki
T
Matsuo
Mari
M
Imaizumi
Kiyoshi
K
Kuroki
Yoshikazu
Y
Nishimura
Gen
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D024182:Uniparental Disomy / Q000235:genetics*
D004247:DNA