Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3 : 1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX, +der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was du e to a 3:1 segregation with tertiary trisomy transmitted from a maternal re ciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligo hydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic fea tures of hypertelorism, a prominent glabella, epicanthic fold, a stubby nos e with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bil ateral renal agenesis and ascites. A cytogenetic study performed on fibrobl asts obtained from the proband's skin revealed an extra supernumerary chrom osome. The mother was later found to have a reciprocal translocation. Fluor escence in situ hybridization for a submicroscopic deletion in chromosome 2 2q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proxi mal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic ana lysis in fetuses with urological anomalies, including renal agenesis, to un cover underlying genetic disorders. Copyright (C) 1999 John Wiley & Sons, L td.