Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
Berends
M J
MJ
Hordijk
R
R
Scheffer
H
H
Oosterwijk
J C
JC
Halley
D J
DJ
Sorgedrager
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
D005819:Genetic Markers