Partial Duplication 4p
Presentation
The phenotypic characteristics of this condition present with severe mental retardation, delayed psychomotor development, craniofacial anomalies, strabismus, musculoskeletal defects, heart defects, cryptorchidism and micropenis. [alicia.concytec.gob.pe]
We present a patient with a partial "de novo" duplication in the distal segment of the long arm of chromosome 4 (q31, q35), in association with Robertsonian translocation between chromosomes 14 and 21. [pesquisa.bvsalud.org]