Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis.

OBJECTIVE

The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.

MATERIALS AND METHODS

A 30-year-old woman was referred to a hospital at 19 weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus. The prenatal abnormality and cytogenetic findings in the fetus were compared with other patients with 9p deletion.

RESULTS

Karyotype analysis of the fetus cell showed a karyotype of 46,XX,del(9)(p22). aCGH analysis detected a deletion as arr[hg19] 9p24.2p22.2(226,7812-1,7466,907)×1. Individuals with 9p deletions tend to have features with widely variable expressivity. The common clinical manifestations of the 9p deletion include development delay, learning difficulties, hypotonia and trigonocephaly.

CONCLUSION

Phenotypes of 9p deletion cases are broadly in line. The prenatal diagnosis of the omphalocele provides evidence for a correlation with distal 9q deletion.