title: Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
abstract: A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.
authors.affiliation: michaela.tschernigg@kfunigraz.ac.at
authors.forename: M
authors.initials: M
authors.lastname: Tschernigg
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: A
authors.initials: A
authors.lastname: Leonhardtsberger
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: P M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D020080:Tandem Repeat Sequences; D014314:Trisomy