PT  - JOURNAL ARTICLE
AU  - Ayyash, H
AU  - Mueller, R
AU  - Maltby, E
AU  - Horsfield, P
AU  - Telford, N
AU  - Tyler, R
TI  - A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
AID  - 10.1136/jmg.34.7.610
DP  - 1997 Jul 01
TA  - Journal of Medical Genetics
PG  - 610--612
VI  - 34
IP  - 7
4099  - http://jmg.bmj.com/content/34/7/610.short
4100  - http://jmg.bmj.com/content/34/7/610.full
SO  - J Med Genet1997 Jul 01; 34
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.