Chromosome 9- trisomy 9q
Overview
A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
Symptoms
* Small head * Long head * Retrognathia * Bulging forehead * Facial asymmetry * Large pinnae * Crumpled helices * Narrow space between eyelids * Drooping upper eyelid * Deeply-set eyes * Small eyes * Strabismus * Occasional ectopia lentis * Long nose * Narrow nose * Beaked nose * Narrow nasal bridge * Small mouth * Thin upper lip * Down turned corners of mouth * Cleft palate * Torticollis * Arachnodactyly * Abnormal implantation of fingers * Excessive digital creases * Joint contractures * Stiff joints * Dysplastic hip * Scoliosis * Kyphosis * Infant reduced muscle tone * Erythema * Encephalopathy * Brisk reflexes * Mitral regurgitation * Aortic regurgitation * Systolic click * Undescended testes * Hypoplastic scrotum * Growth retardation * Motor retardation * Speech retardation * Mental retardation * Failure to thrive * Feeding difficulty * Hyperactivity
Diagnosis
signs and symptoms of Chromosome 9q 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 9q duplication syndrome symptoms.
Resources
Terms Similar to Chromosome 9, trisomy 9q: * Duplication 9q * Trisomy 9q Source - NIH