First report of management and outcome of pregnancies associated with hereditary orotic aciduria

✍ Scribed by Bensen, Jeannette T. ;Nelson, Lewis H. ;Pettenati, Mark J. ;Block, Steven M. ;Brusilow, S. W. ;Livingstone, Laura R. ;Burton, Barbara K.

• Book ID: 102702690
• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 607 KB
• Volume: 41
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320410408

✦ Synopsis

Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), + der(22)t(l1;22)(p23;qll) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.