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Table 1 The common features of the distal 10q trisomy syndrome

From: Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report

Facial

Musculoskeletal

Other

Minor facial dysmorphism*

Microcephaly*

Growth retardation*

High/large forehead*

Hypotonia

Psychomotor retardation*

Fine eyebrows*

Joint laxity

Mental retardation*

Antimongoloid slants*

Camptodactyly*

Cardiac abnormalities

Ocular hypertelorism

Scoliosis

Ocular abnormalities

Epicanthic folds

Short neck

Renal abnormalities*

Flat nasal bridge*

Small bones and hands*

Brain abnormalities*

Short nose

 

Pulmonary defects

Low set ears

 

Autism spectrum disorder

Posteriorly rotated ears*

  

Short palpebral fissures*

  

Cleft palate

  

Retrognathia

  

Bow-shaped mouth*

  
  1. * Features present in the present report’s described case.