A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
case_report · Level V
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- Record sourced from PubMed, PMID 2002483.
- Also identified by PMC identifier 1016782.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Inversion
- Chromosomes, Human, Pair 7
- Recombination, Genetic