WebSummary. A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, … WebHer karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in combination with other similar cases suggest that 7p trisomy due to dir dup (7p) can be regarded as a defined chromosome syndrome.
Rare combination in an infant patient: trisomy 7p and tetralogy of ...
WebApr 10, 2000 · A review of all published cases of trisomy 7p with focus on associated complications suggests a well-defined pattern of abnormalities characterized by musculoskeletal, cardiovascular, neurological, genital, and ocular abnormalities in decreasing frequency. WebDistal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically … short high school graduation dresses
WebCombining with the comparative review of the clinical data in 14 cases with partial trisomy 7p syndrome from reported literatures,we searched for the correlation between the karyotype and the phenotype and between the karyotype and the associated gene in the patients with partial trisomy 7p syndrome. WebDistal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically … WebDistal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large … short high school graduation wishes