Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26)

Abstract

We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46, XY,‐10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.

Chromosomal anomalies in the etiology of anorectal malformations: A review

“…In three of these cases there was a pure 10q deletion; the others, in addition, had an imbalance of a second chromosome. Early reports suggest that anal anomalies are associated with larger more proximal deletions that include 10q25 [Brusnicky et al, 1986; Wulfsberg et al, 1989], but two other cases with an ARM have more distal breakpoints [Tsukuda et al, 1996; Maruyama et al, 2001]. Our own series also includes one female patient with a deletion 10q26‐qter and an ARM.…”

“…Five cases with an ARM and a deletion of the terminal part of chromosome 10q have been published [Wegner et al, 1981; Wulfsberg et al, 1989; Tsukuda et al, 1996; Maruyama et al, 2001]. An additional two cases showed an anteriorly displaced anus [Lewandowski et al, 1978; Brusnicky et al, 1986].…”

Partial proximal 10q trisomy: a new case associated with biliary atresia

“…This is the first description of the association between biliary atresia, anal anteposition, aortic coarctation, LSVC and partial proximal trisomy 10q syndrome. This syndrome has been recently identified in 10 patients sharing dysmorphic characters and locus duplication (VOGEL et al 1978;SURANA and PARK 1980;KOIVISTO et al 1981;REINTHALLER 1985;FRYNS et al 1987;de MICHELENA and CAMPOS 1991;AALFS et al 1995;van BUGGENHOUT et al 1996;LAM et al 2000;NUCARO et al 2002). The typical dysmorphic profile is described in Table 1.…”

“…Biliary atresia has also been documented in trisomy 18 (Alpert et al 1969; Buffa et al 1972; Ikeda et al 1999) and as a part of a digestive polymalformative syndrome associated with trisomy 21 (Pameijer et al 2000). Three reports documented anorectal malformation associated to chromosome 10q abnormalities: one with 10q proximal trisomy (Lam et al 2000), and two others with 10q monosomy (Tsukuda et al 1996; Maruyama et al 2001). However, disparities of chromosomal defects in these reports render the interpretation of genotype/phenotype correlation hazardous.…”