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)

Abstract

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 due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29‐year‐old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non‐visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low‐set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders. Copyright © 1999 John Wiley & Sons, Ltd.

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter

“…These features include dolichocephaly, flat and broad nasal bridge and anteverted nares, microretrognathia, low set and malformed ears, cleft palate, webbed neck, flexed and tapering fingers, hypoplastic thenar eminence, contractures of different joints, kidney anomalies, seizures, mental retardation, and heart anomalies. [22][23][24][25][26][27][28][29][30] Thus, the major characteristics of the phenotype in this patient may be caused by the partial trisomy 16p alone.…”

Formalin: Nephrotoxic teratogen?

“…Chen et al 13 . reported bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16.…”

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22

“…Partial trisomy 13 is a distinct syndrome [Rogers, 1984; Tharapel et al, 1986]. However, trisomies involving all or part of the 13q1 region (as well as the centromere and 13p) are rare [Escobar and Yunis, 1974; Noel et al, 1976; Moedjono and Sparkes, 1979; Patil and Zellweger, 1981; Tharapel et al, 1984; Cotton et al, 1993; Nagai et al, 1994; Chen et al, 1999; Lukusa et al, 1999] and would not seem to be responsible for any clinical syndrome as recognizable as that of distal trisomy [Giraud et al, 1977; Moedjono and Sparkes, 1979]. A review of proximal trisomy 13 shows a variability in the phenotypic expression.…”