title: 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.
authors.affiliation: Sección de Genética Medica, Hospital de la SS La Paz, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Delicado
authors.forename: E
authors.initials: E
authors.lastname: Escribano
authors.forename: I
authors.initials: I
authors.lastname: Lopez Pajares
authors.forename: A
authors.initials: A
authors.lastname: Diaz de Bustamante
authors.forename: S
authors.initials: S
authors.lastname: Carrasco
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy; D011995:Recombination, Genetic; D012307:Risk Factors; D014314:Trisomy