Omphalocele in trisomy 3q: further delineation of phenotype

Abstract

We report a case of a patient with omphalocele, dysmorphic features, and mild developmental delay associated with a chromosomal aberration. Chromosome studies showed that the propositus carries a maternally derived unbalanced translocation der(4)t(3;4)(q27.3;q32.3), resulting in trisomy for region 3q27.3-->qter and monosomy for 4q32.3-->qter. Because the association between dup3q and omphalocele has been reported in several cases, we analyzed the data on 93 previously reported patients with partial trisomy of the long arm of chromosome 3 and compared the clinical features between the cases. The imbalance of chromosome 3 in the patient was further defined by fluorescence in situ hybridization (FISH) studies using bacterial artificial chromosome (BAC) clones. BAC clone RP11-171N2 was identified as a breakpoint-spanning clone in the patient and his mother. Based on our comparative analysis, we have delineated that the smallest region of overlap (SRO) associated with omphalocele is from BAC 171N2 to 3qter. We hypothesize that the SRO contains a gene(s) important in normal abdominal wall development and is of potential interest for further investigation.

Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype

“…Reciprocal translocation is the most frequent parental chromosome anomaly. In our case, parental chromosome analysis demonstrated a maternal pericentric inversion of chromosome 3 (46, XX, inv (3) (p26q21) • Renal anomalies (Blumberg, 1980) • Renal cystic dysplasia (Blumberg, 1980) • Renal cortical cysts (Chiyo, 1976;Fear, 1979) • Unilateral renal agenesis (Blumberg, 1980) • Renal calcification (Ismail, 1991) • Adrenal neuroblastoma (Qureshi, 1994) • Malrotation (Blumberg, 1980) • Lung hypoplasia (Blumberg, 1980;Qureshi, 1994) • Omphalocele (Mulcahy, 1979;Chen, 1996;Yatsenko, 2003;Park, 2008) Central nervous • Dandy-Walker malformation (Chiyo, 1976; de Azevedo Moreira, 2005) Ventriculomegaly system • Cerebellar hypoplasia (Steinbach, 1979) • Arhinencephaly (Steinbach, 1979) • Hypoplasia of corpus callosum (Steinbach, 1979) • Microcephally (Blumberg, 1980) • Spina bifida (de Azevedo Moreira, 2005; Gimelli, 2007) Genital system • Hypospadias (Fryns, 1984) • Bicornuate uterus (Chiyo, 1979;Blumberg, 1980) • Streak ovaries (Blumberg, 1980) • Duplication of the vagina and cervix (Blumberg, 1980) • Ambiguous genitalia (Gimelli, 2007) Anal anomalies • Anteriorly placed anus (Fryns, 1979) • Anal stenosis (Gustashaw, 1985) …”

“…An omphalocele is a herniation of bowel, liver and other abdominal viscera into a membranous sac with the umbilical cord at its apex. The prevalence of omphalocele varies considerably, ranging from 0.8 to 3.9 per 10,000 births (23). Abnormal karyotypes have been reported in 10 to 40% (combined mean rate of 12%) of neonates with omphaloceles.…”

“…At prenatal sonographic examination they demonstrated an omphalocele containing the liver (3). Yatsenko et al (23) reported a case with karyotype of 46,XY,der (4)t(3;4)(q27.3;q32.3)mat, resulting in trisomy for 3q27.3→qter and monosomy for 4q32.3→qter. Their case had an omphalocele that contained part of the left hepatic lobe, stomach, and transverse colon.…”

“…Their case had an omphalocele that contained part of the left hepatic lobe, stomach, and transverse colon. They also searched the literature to identify previously reported cases of partial trisomy 3q associated with omphalocele, and found that 26 of 93 cases presented with an omphalocele (23). In all of them, the area of duplication includes the region 3q27.3→qter.…”

Umbilical Region Affections in Ruminants

“…In human, several causes have been accused to be resposable for the occurance of omphalocele. Heridetery and genetic disorders due to the presence of chromosomal anomalies like trisomy 13 and 18 is believed to be the cause of some cases of omphalocele (Nyberg et al, 1989;Kanagawa et al,2002;Yatsenko et al,2003).…”