Del (9p) syndrome: report of four cases.
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 neuro-psychiatric problems were common in their later ages.
Hou
Jia-Woei
JW
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, No. 5, Fu-Shin Street, Kweishan, Taoyuan, Taiwan. houjw741@adm.cgmh.org.tw
D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male