Chung Y.-P.HSIAO-LIN HWALI-HUI TSENGMING-KWANG SHYUCHIEN-NAN LEEJIN-CHUNG SHIHFON-JOU HSIEH2021-02-042021-02-0419980197-3851https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031962673&doi=10.1002%2f%28SICI%291097-0223%28199801%2918%3a1%3c73%3a%3aAID-PD215%3e3.0.CO%3b2-8&partnerID=40&md5=13a7d352575240ceaea502ecadc8b40chttps://scholars.lib.ntu.edu.tw/handle/123456789/548235The association of rare chromosomal rearrangements involving a specific 10q breakpoint with a single umbilical artery (SUA) and sex reversal has never been reported. This report describes the case of a fetus with prenatal ultrasound features of severe intrauterine growth retardation (IUGR), congenital heart disease, and SUA. Fetal blood study revealed de novo deletion of 10q25 and a 46,XY karyotype, while ultrasound demonstrated female genitalia. Based on these findings, sex reversal was diagnosed. Polymerase chain reaction (PCR) amplification revealed the presence of the sex-determining region of the Y (SRY) gene. The pregnancy was terminated at 36 weeks and the newborn weighed 1908 g with marked facial dysmorphism and abnormal genitalia. Because the parents refused autopsy for this case, histopathological examination of gonads was not performed. Breakpoint of the long arm of chromosome 10 may be responsible for sex reversal in the present case and it could thus confirm the concept of autosomal sex reversal proposed in previous reports.[SDGs]SDG3artery malformation; article; case report; chromosome 10q; congenital heart disease; face dysmorphia; female; female genital system; fetus; fetus echography; genital malformation; human; human cell; induced abortion; intrauterine growth retardation; karyotype; male; monosomy; polymerase chain reaction; prenatal diagnosis; priority journal; sex transformation; umbilical artery; Abortion, Induced; Adult; Chromosomes, Human, Pair 10; Craniofacial Abnormalities; Female; Fetal Growth Retardation; Gene Deletion; Heart Defects, Congenital; Humans; Karyotyping; Male; Monosomy; Pregnancy; Prenatal Diagnosis; Sex Differentiation Disorders; Ultrasonography, Prenatal; Umbilical Arteriesjournal article10.1002/(SICI)1097-0223(199801)18:1<7394836442-s2.0-0031962673