Inverted duplication of 8p: Ten new patients and review of the literature

Abstract excerpt

We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypotonic at birth, and had feeding difficulties in the neonatal period. All patients have significant developmental delay. Manifestations present in 5 or more patients...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Ear and Nasal Anomalies
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics