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

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

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 previo...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Developmental medicine and child neurology 2001-02, Vol.43 (2), p.130-132
Hauptverfasser: Schmidt, Nicole, Van Dyke, Don C, Keppler-Noreuil, Kim, Muilenburg, Ann, Patil, Shivanand, Kanis, Adam B
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Case Reports
Chromosome Deletion
Chromosomes, Human, Pair 16 - genetics
Chromosomes, Human, Pair 18 - genetics
Developmental Disabilities - etiology
Developmental Disabilities - genetics
Humans
Infant, Newborn
Male
Trisomy
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:0012-1622
1469-8749
DOI:10.1017/S0012162201000238