Chromosome 6- trisomy 6q
Overview
A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Symptoms
* Small head * Acrocephaly * Brachycephaly * Turricephaly * Prominent forehead * Small jaw * Flat face * Flat back of skull * Low-set ears * Thick earlobes * Downward slanting space between eyelids * Widely spaced eyes * Retinal detachment * Blue sclera * Glaucoma * Short nose * Flat nose * Broad nasal bridge * Choanal stenosis * Short philtrum * Carp mouth * Thin lips * Cleft palate * Bifid uvula * Highly arched palate * Short neck * Webbed neck * Omphalocele * Clinodactyly * Syndactyly * Talipes equinovarus * Joint contractures * Scoliosis * Seizures * Congenital heart defect * Hypospadias * Hypoplastic labia * Hypoplastic penis * Hypoplastic scrotum * Hypothyroidism * Hypoglycemia * Growth retardation * Mental retardation
Diagnosis
signs and symptoms of Chromosome 6q 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 6q duplication syndrome symptoms.
Resources
Terms Similar to Chromosome 6, trisomy 6q: * Duplication 6q * Trisomy 6q Source - NIH