It is important to note that exceptions may also occur, where individuals with small amount of chromosomal gains, may have disproportionately severe presentations. [dovemed.com]

The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. [bv.fapesp.br]

The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. [eurekamag.com]

His phenotype is thus quite different from other cases present in the literature. [docksci.com]

• Foot Deformity

  deformities including: High arched feet (pes cavus) Proximal placement of thumb Short phalanx of finger Short toe Tapered finger Camptodactyly (bent fingers that cannot be straightened) Congenital hip dislocation Intellectual disability that is typically [dovemed.com]

• Bulbous Nose

  Bulbous nose Bulbous nasal tip, Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose. Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. [rarediseases.oscar.ncsu.edu]

  nose Heart abnormalities such as: Atrial septal defect Ventricular septal defect Pectus excavatum Hand and foot deformities including: High arched feet (pes cavus) Proximal placement of thumb Short phalanx of finger Short toe Tapered finger Camptodactyly [dovemed.com]

and in some cases, due to treatment also. [dovemed.com]

[…] duplication 16p; Trisomy 16pter16p13.3 duplication; 16p13.3 microduplication syndrome; Distal duplication 16p; Distal trisomy 16p; Dup(16)(p13.3); Interstitial 16p13.3 duplication; Telomeric duplication 16p; Trisomy 16pter About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]

In particular, he followed speech therapy and psychomotor and psychoeducational treatment. [docksci.com]

What is the Prognosis of Chromosome 16p13.3 Duplication Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 16p13.3 Duplication Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

Developmental delay occurs in 1% to 3% of the population, with unknown etiology in approximately 50% of cases. [docksci.com]

(Etiology) Chromosome 16p13.3 Duplication Syndrome is caused by the presence of extra genetic material on chromosome 16 at a location designated p13.3. This occurs as a result of duplication of genetic material at this locus. [dovemed.com]

How can Chromosome 16p13.3 Duplication Syndrome be Prevented? Chromosome 16p13.3 Duplication Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]