Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.
This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.
Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.
Rachel
R
O'Connor
Amel
A
Al-Murrani
Salim
S
Aftimos
Philip
P
Asquith
Roberto
R
Mazzaschi
Dominique
D
Eyrolle-Guignot
Alice M
AM
George
Donald R
DR
Love