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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).

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.
AuthorsA Delicado, E Escribano, I Lopez Pajares, A Diaz de Bustamante, S Carrasco
JournalJournal of medical genetics (J Med Genet) Vol. 28 Issue 2 Pg. 126-7 (Feb 1991) ISSN: 0022-2593 [Print] England
PMID2002483 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Chromosome Banding
  • Chromosome Inversion
  • Chromosomes, Human, Pair 7
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Male
  • Monosomy
  • Recombination, Genetic
  • Risk Factors
  • Trisomy

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