title: Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.
abstract: A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially monosomic for the short arm of chromosome 18 and partially trisomic for the short arm of chromosome 16: a combination of chromosomal syndromes not previously described.
authors.affiliation: Department of Pediatrics, Children's Hospital of Iowa, Iowa, USA.
authors.forename: N
authors.initials: N
authors.lastname: Schmidt
authors.forename: D C
authors.initials: DC
authors.lastname: Van Dyke
authors.forename: K
authors.initials: K
authors.lastname: Keppler-Noreuil
authors.forename: A
authors.initials: A
authors.lastname: Muilenburg
authors.forename: S
authors.initials: S
authors.lastname: Patil
authors.forename: A B
authors.initials: AB
authors.lastname: Kanis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy