title: Familial 10p trisomy resulting from a maternal pericentric inversion.
abstract: We report a familial recombination of a pericentric inversion of chromosome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(10) dup p,inv(10) (p11.2q26). Both of these individuals had the typical characteristics of 10p trisomy, however, at birth the proposita had mild facial anomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroesophageal reflux causing severe anemia. The phenotype of our patients is compared to 41 patients with 10p trisomy reported in the literature.
authors.affiliation: Department of Pediatrics, Georgetown University Medical Center, Washington, District of Columbia 20007.
authors.forename: C
authors.initials: C
authors.lastname: Kozma
authors.forename: J M
authors.initials: JM
authors.lastname: Meck
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D014314:Trisomy