Prenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review

Abstract

Terminal 7q deletion is a rare chromosomal anomaly resulting from partial deletion of the long arm of chromosome 7. 7q terminal deletion syndrome results in variable clinical phenotypes, such as microcephaly, holoprosencephaly, craniofacial abnormalities, sacral hypoplasia, etc. We report a case of prenatal diagnosis of this syndrome with multiple abnormalities including holoprosencephaly and other craniofacial anomalies seen on ultrasound seen at NT scan. Pregnancy was terminated and chromosomal microarray showed ∼5.5 MB deletion in chromosome 7 spanning the 7q36.2-36.3 region. In addition, a literature review was done to enlist the various prenatal ultrasound features of this rare syndrome.

Keywords

• Terminal 7q deletion syndrome
• Distal 7q monosomy
• Trisomy 13
• Prenatal ultrasound
• Holoprosencephaly
• Fetal autopsy