A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
We report a case of a male infant who presented with congenital anomalies and was found to have a de novo deletion in the terminal region of the long arm of chromosome 9. He died at the age of 17 weeks of cardiorespiratory failure owing to RSV positive bronchiolitis. A review of previously published reports documented one previous report of a patient with a deletion of (9)(q34.3) and multiple congenital anomalies. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformations.
Ayyash
H
H
Department of Paediatrics, Chesterfield and North Derbyshire Royal Hospital, Calow, UK.
Mueller
R
R
Maltby
E
E
Horsfield
P
P
Telford
N
N
Tyler
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype