Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature. (17th November 2022)

• Record Type: Journal Article
• Authors: Zhao, Xuliang; Sun, Weiwei; Jia, Jian-an; Wei, Zhuojun; Li, Xu; Liao, Wenbin; Wu, Juanshu; Wang, Yajian; Tian, Ruixia
• Is Part Of: Journal of maternal-fetal & neonatal medicine. Volume 35:Number 22(2022)
• Page Start: 4268
• Page End: 4272
• Publication Date: 2022-11-17
• Subjects: Prenatal diagnosis -- molecular diagnostics -- genetics -- congenital malformations -- Doppler ultrasound; Obstetrics -- Periodicals; Perinatology -- Periodicals; Infants (Newborn) -- Diseases -- Periodicals; Neonatology -- Periodicals; 618.2
• DOI: 10.1080/14767058.2020.1849104
• Languages: English
• ISSNs: 1476-7058

Abstract

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.