De novo partial trisomy 15q (proximal type).
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
Herweijer
T J
TJ
Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands.
Oorthuys
J W
JW
Leschot
N J
NJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D013285:Strabismus / Q000235:genetics; D014314:Trisomy; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics
D005819:Genetic Markers; D001619:beta-N-Acetylhexosaminidases