title: A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.
abstract: A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: M J
authors.initials: MJ
authors.lastname: Van den Boogaard
authors.forename: J
authors.initials: J
authors.lastname: De Pater
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007818:Laryngeal Diseases / Q000151:congenital* / Q000235:genetics / Q000401:mortality; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy