Chromosome 13q trisomy

December 31, 2014

Overview

A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.

Symptoms

Small head
Asymmetrical face
Prominent forehead
Small jaw
Cranial anomalies
Low set malformed ears
Soft ear cartilage
Strabismus
Widely spaced eyes
Small eyes
Busy eyebrows
Long eyelashes
Short nose
Upturned nostrils
Depressed nasal Bridge
Long philtrum
Epicanthal folds
Cleft lip
Cleft palate
Torticollis
Widely set nipples
Omphalocele
Clinodactyly
Polydactyly
Valgus deformity
Rocker-bottom feet
Simian creases
Reduced muscle tone
Convulsions
Tetralogy of Fallot
Atrioseptal defect
Undescended testes
Persistence of fetal hemoglobin
Mental Retardation
Growth Retardation
Motor Retardation
Hemangioma

Diagnosis

This medical information about signs and symptoms for Chromosome 13q duplication syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 13q duplication syndrome signs or Chromosome 13q duplication syndrome symptoms. Furthermore, signs and symptoms of Chromosome 13q duplication syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 13q duplication syndrome symptoms.