Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature

Abstract

Clinical cases of chromosome 7 long-arm end deletion are rare. Generally, 7q terminal deletion syndrome results in complex clinical phenotypes, such as microcephaly, growth and development retardation, holoprosencephaly, and sacral hypoplasia. Herein, we report the genetic and clinical features of a fetus with multiple malformations observed by prenatal ultrasound. The results showed that there was a large fragment deletion of approximately 27.7 Mb in 7q32.3-qter. The induced fetus showed facial abnormalities of cleft lip and palate, and some organ structural abnormalities (such as diaphragmatic hernia and polycystic renal dysplasia) were observed by autopsy and pathology. To provide more reliable information for disease diagnosis and genetic counseling, we reviewed and analyzed the reported cases of isolated 7q terminal syndrome.

Keywords:

• Prenatal diagnosis
• molecular diagnostics
• genetics
• congenital malformations
• Doppler ultrasound

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.

Acknowledgements

We are grateful to the patients and their families, as well as for the help of all the physicians in the course of the medical treatment. We wish to thank the staff of Chigene (Beijing) Translational Medical Research Center Co. Ltd for providing NGS testing, genetic diseases analyses, and helpful discussions. We thank Editage (www.editage.cn) for English language editing of the manuscript submitted for publication.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by the Science and Technology Innovation Project of Former Nanjing Military Region (15ZD015).