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

Authors
Schmidt, N Van Dyke, DC Keppler-Noreuil, Z Muilenburg, A Patil, S Kanis, AB
Citation
N. Schmidt et al., Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16, DEVELOP MED, 43(2), 2001, pp. 130-132
Citations number
17
Categorie Soggetti
Pediatrics,"Neurosciences & Behavoir
Journal title
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
ISSN journal
00121622 → ACNP
Volume
43
Issue
2
Year of publication
2001
Pages
130 - 132
Database
ISI
SICI code
0012-1622(200102)43:2<130:DDAMCA>2.0.ZU;2-I
Abstract
A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially mon osomic for the short arm of chromosome 18 and partially trisomic for the sh ort arm of chromosome 16: a combination of chromosomal syndromes not previo usly described.