Trisomy E and T-E fistula.

نویسندگان

  • A Sommer
  • J L Grosfeld
چکیده

One of the more common chromosomal abnormalities which has been well delineated and documented is trisomy of an E group chromosome. Since the first report of this syndrome by Edwards et al. (1960) and also by Patau et al. (1960), data on this anomaly have accumulated rapidly, and most cases are diagnosed on clinical features-only to be confirmed by chromosome analysis. The pitfalls in diagnosis have been recently described by Taylor (1968) who analysed 27 cases of E and 27 of D trisomy in detail. A high degree of overlap between the two conditions is evident, and in this report only one feature (webbed neck) finally emerged as one stigmata not found in D trisomy as well. One of the anomalies that has only rarely been reported in the E trisomy is tracheo-oesophageal (T-E) fistula. We wish to report two cases ofEdwards syndrome that were seen at Columbus Children's Hospital in March 1969. These infants were referred to our surgical service because of multiple congenital anomalies, including oesophageal atresia and T-E fistulas. In both cases, the diagnosis of trisomy 18 was confirmed by chromosome analysis.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 7 1  شماره 

صفحات  -

تاریخ انتشار 1970