J Matern Fetal Neonatal Med

. 2020 Nov 19;1-5. doi: 10.1080/14767058.2020.1849104. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/33213225/

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

Xuliang Zhao ¹, Weiwei Sun ², Jian-An Jia ¹, Zhuojun Wei ³, Xu Li ⁴, Wenbin Liao ⁵, Juanshu Wu ¹, Yajian Wang ², Ruixia Tian ³Affiliations expand

• PMID: 33213225
• DOI: 10.1080/14767058.2020.1849104

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: Doppler ultrasound; Prenatal diagnosis;; congenital malformations;; genetics;; molecular diagnostics;.