RT Journal Article
SR Electronic
T1 A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 610
OP 612
DO 10.1136/jmg.34.7.610
VO 34
IS 7
A1 Ayyash, H
A1 Mueller, R
A1 Maltby, E
A1 Horsfield, P
A1 Telford, N
A1 Tyler, R
YR 1997
UL http://jmg.bmj.com/content/34/7/610.abstract
AB 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.