A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter)
Kleczkowska, A.; Fryns, J.P.; van den Berghe, H.
Annales de Genetique 36(2): 126-128
1993
ISSN/ISBN: 0003-3995 PMID: 8215219 Document Number: 408209
In this report the authors describe a multimalformed female newborn with terminal deletion of the long arm of chromosome 5 (q35.1qter). The multiple congenital anomaly syndrome consisted of a combination of oral, facial and digital anomalies. The present observation indicates that cytogenetic studies are needed in all patients presenting developmental delay and orofacio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.