Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

N Schmidt; D C Van Dyke; K Keppler-Noreuil; A Muilenburg; S Patil; A B Kanis

doi:10.1017/s0012162201000238

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

Dev Med Child Neurol. 2001 Feb;43(2):130-2. doi: 10.1017/s0012162201000238.

Authors

N Schmidt¹, D C Van Dyke, K Keppler-Noreuil, A Muilenburg, S Patil, A B Kanis

Affiliation

¹ Department of Pediatrics, Children's Hospital of Iowa, Iowa, USA.

PMID: 11221902
DOI: 10.1017/s0012162201000238

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 16 / genetics*
Chromosomes, Human, Pair 18 / genetics*
Developmental Disabilities / etiology
Developmental Disabilities / genetics*
Humans
Infant, Newborn
Male
Trisomy*