Oesophageal atresia in a neonate with a familial translocation t(1;13)(p8;q12).

Oesophageal atresia (OA) is a relatively common congenital malformation with an incidence of 1 per 2500-3000 live births (13). Although the etiology of OA is not exactly known, other associated anomalies such as cardiac malformations have been reported in approximately half of the cases (12). Specifically, OA is a component of VACTERL association, which occurs in 20-67% of patients with this association of multiple anomalies (6). OA is also associated with major chromosomal anomalies such as trisomy 13, 18 and 21 in around 10% of cases (14). This finding may suggest the presence of a possible association between chromosomal abnormalities and OA. Herein, we report a female infant with a prenatal diagnosis of translocation (I;13)(p13;q12) who also had OA and distal tracheo-esophageal fistula (TOF). A female infant was born by cesarean section at 38 weeks' gestation to a 37 year-old mother from second pregnancy with Apgar scores of 7 and 9 at 1 and 5 minutes, respectively. Her parents were non-consanguineous. The history revealed that her mother was routinely followed up during her pregnancy, and amniocentesis was performed at 1 7 weeks of gestation as the triple test revealed high risk for Trisomy 21. Cytogenetic examination of the amnion fluid revealed 46XX, t(l;13)(pl3; ql2). Therefore, cytogenetic examination of the parents was performed, and translocation 1;13 was also found in the father. However, the father, who was 40 years old, had a normal phenotype. The infant's birth weight was 1800 gram ( Echocardiography, skeletal X-ray and both cranial and abdominal ultrasonographic scans were all found to be normal. A primary anastomosis of the oesophagus with closure of TOF was performed on the day of admission. The postoperative course was then uneventful and she was discharged from the hospital at 10 days of age without any complication. At follow-up, she had weight gain and no additional problem. Although OA may be associated with chromosomal anomalies in 10% of cases, to our knowledge, this is the first case who had both translocation 1;13 and OA with distal TOF. Although this may be a coincidence, it may be associated with t(l;13). Therefore, all infants with chromosomal anomalies such as trisomy, deletion or translocation, should be evaluated for the possible presence of other associated anomalies. Brunner and Winter (1) suggested that an abnormal karyotype can be found in 6% of patients with OA and associated anomalies. Trisomies 13, 18 and 21 are reported to be important risk factors for OA with TOF (14). The data suggest that trisomy 1 8 may be a greater risk factor for OA/TOF than trisomy 21 (12). There are also some other chromosomal imbalances that may predispose to OA. A weak association between OA/TOF and the 22ql 1 deletion syndrome was reported. In a series of 15 patients with syndromic OA, one of them had 22ql 1 deletion syndrome (3). Kilic et al. (7) also described a case with OA/ TOF and DiGeorge syndrome. Schinzel (11) noted that OA and TOF might occur uncommonly in at least 10 different chromosomal abnormalities. These have been isolated cases in all instances except for two, where two out of 15 patients with dup(3)(pter-p21) had a TOF as did two out of three cases with del(6)(ql3-ql5); there were no cases associated with chromosome 2 abnormalities. Also, the discovery of three patients with an interstitial 17q deletion and TOF is significant and unlikely to be coincidental (2, 10). Consistent with this report, Marsh et al. (8) also reported a premature infant, 46, XY, del 17(q22q23. …