Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal defect, and hypoplastic aortic arch. The initial routine chromosome study failed to detect any abnormality. Subtelomeres analysis by MLPA identified an 18q23 duplication inherited from its healthy father. We describe the anomalies identified and discuss diagnosis and the causability of this telomeric duplication.
Isidor
Bertrand
B
Medical Genetic Department, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr <bertrand.isidor@chu-nantes.fr>
Winer
Norbert
N
Joubert
Madeleine
M
Boisseau
Pierre
P
Le Caignec
Cedric
C
Bocéno
Michelle
M
Fallet
Catherine
C
David
Albert
A
Rival
Jean Marie
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005315:Fetal Diseases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009693:Nucleic Acid Hybridization