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A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
  1. A Delicado,
  2. E Escribano,
  3. I Lopez Pajares,
  4. A Diaz de Bustamante,
  5. S Carrasco
  1. Sección de Genética Medica, Hospital de la SS La Paz, Madrid, Spain.

    Abstract

    We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.

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