Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

RATIONALE

Chromosome deletion/duplication has been reported to be associated with mental disability and dysmorphism according to the accumulated research evidence.

PATIENT CONCERNS

A 25-year-old woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation due to the increased Down syndrome risk of 1/13.

DIAGNOSES

The fetal chromosomal analysis revealed a seemingly "normal" chromosomal karyotype, but the SNP array results showed a partial duplication of chromosome 4q34.1q35.2 and a deletion of chromosome 7q34q36.3fluorescence in situ hybridization (FISH) analysis showed that the couple had normal chromosome 4 and 7, whereas there was a partial signal fragment of chromosome 4 attached on the long arm of chromosome 7 for the fetus.

INTERVENTIONS

The couple finally chose to terminate the pregnancy based on the ultrasonic multiple malformations and the abnormal SNP array results.

OUTCOMES

The duplicated/deleted segments of the fetus were de novo. Meanwhile, we consider SHH and XRCC2 as good candidate genes, which may, in part, explain the observed abnormalities for the fetus.

LESSONS

The combination of SNP array and FISH analysis can give a molecular chromosomal diagnosis, which will offer more clear cytogenetic diagnosis and genetic counseling.