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Keywords:

  • Chromosomal abnormality;
  • congenital malformations

ABSTRACT. A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial-hexadactyly of the toes, congenital herat disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46, XYdel(2)(q12q14).