Chromosome 9- trisomy 9q32


A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.


* Beaked nose * Short eyelids * Short neck * Short stature * Short palpebral fissures * Long narrow head * Abnormal ear shape * Joint anomalies * Patent ductus arteriosus * Reduced amniotic fluid * Abnormal ear structure * Epicanthic folds * Prominent forehead * High vaulted palate * Mental retardation * Small head * Small jaw * Chronic inflammatory lung disease * Decreased hair pigmentation * Narrow palate * Wide set eyes * Reduced muscle tone * Low-set ears * Recessed jaw * Premature birth


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Chromosome 9, trisomy 9q32 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, trisomy 9q32, or a subtype of Chromosome 9, trisomy 9q32, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)