title: Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.
abstract: A dysmorphic newborn showed an interstitial deletion of the long arm of a chromosome 16 due to a balanced paternal insertional translocation 46,XY,ins(14;16)(q23;q13q22). The insertion was confirmed by chromosomal in situ suppression (CISS-) hybridization. Clinical features considered to be typical for a 16q- phenotype are demonstrated in this patient. Similar observations described in the literature are compared and discussed with reference to the phenocritical region.
authors.affiliation: Institut für Humangenetik, Erlangen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Edelhoff
authors.forename: B
authors.initials: B
authors.lastname: Maier
authors.forename: U
authors.initials: U
authors.lastname: Trautmann
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
mesh_terms: D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005220:Fathers; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*