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Case Reports
. 1991 Feb;28(2):126-7.
doi: 10.1136/jmg.28.2.126.

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)

A Delicado  1 , E Escribano, I Lopez Pajares, A Diaz de Bustamante, S Carrasco
Affiliations
Case Reports

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)

A Delicado et al. J Med Genet. 1991 Feb.

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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