Del (9p) syndrome: report of four cases
Hou, J-Woei.
Acta Paediatrica Taiwanica 44(1): 50-53
2003
ISSN/ISBN: 1608-8115 PMID: 12800387 Document Number: 553142
The chromosome 9p deletion (del (9p)) syndrome is a rare but specific clinical entity. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Four patients with characteristic features of del (9p) syndrome were reported. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 with the breakpoint being located at band 9p22 in all cases. Fluorescence in situ hybridization using painting probe for chromosome 9 excluded translocations involving 9p and another chromosome. Long-term follow-up in these patients showed that neuropsychiatric problems were common in their later ages.