Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

Autor: Ma D; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China., Yuan T; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Ultrasound, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Zhao Z; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Zeng L; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Wang J; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Nie X; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Maternal and Child Health Centre, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Liang H; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China., Pi G; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Chen A; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Li G; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Tang B; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Maternal and Child Health Centre, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China., Zhu S; Department of Maternal and Child Health Centre, Pingchang Maternity and Child Health Care Hospital, Bazhong, China.; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
Jazyk: angličtina
Zdroj: Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2024 Nov-Dec; Vol. 52 (9), pp. 1495-1498. Date of Electronic Publication: 2024 Sep 02.
DOI: 10.1002/jcu.23814
Abstrakt: We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.
(© 2024 The Author(s). Journal of Clinical Ultrasound published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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