A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter).
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 oro-facio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, U.Z. Gasthuisberg, Belgium.
Fryns
J P
JP
van den Berghe
H
H
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009958:Orofaciodigital Syndromes / Q000235:genetics*