Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome

Objective

We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound.

Case Report

A 30-year-old, gravida 2, para 1, woman was found to have multiple anomalies in the fetus at 14 weeks of gestation by prenatal ultrasound screening. The fetal anomalies included echogenic bowel, a left neck cyst, hypoplastic left heart, single umbilical artery and bilateral clubfeet. The pregnancy was subsequently terminated, and a 64-g malformed fetus was delivered. CMA by array comparative genomic hybridization (aCGH) analysis on the DNA extracted from umbilical cord revealed the result of arr 5q14.3q31.1 (83,557,042–130,841,093) × 1.0 [GRCh37] with a 47.3-Mb 5q14.3-q31.1 deletion encompassing 95 OMIM genes including NR2F1, MEF2C, APC, KCNN2 and FBN2. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from parental bloods and umbilical cord using the informative markers of D5S2496 (5q21.3) and D5S818 (5q23.2) showed that the fetus inherited only one maternal allele, indicating a paternal origin of the interstitial 5q deletion in the fetus.

Conclusion

CMA is useful for genetic investigation of unknown congenital anomalies detected by fetal ultrasound.