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Partial Monosomy 9p
Partial Deletion of 9p

Presentation

For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. [rarediseases.org]

Duyck Present address:, B-8500, Kortrijk G. [link.springer.com]

A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. [ncbi.nlm.nih.gov]

Cardiovascular

  • Cyanosis

    Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

Skin

  • Sweating

    Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

Breast

  • Widely Spaced Nipples

    Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony [rarediseases.org]

Face, Head & Neck

  • Protruding Lips

    and/or a small jaw (micrognathia) and small mouth with protruding lips. [rarediseases.org]

  • Short Nose

    Many affected infants also have unusually flat midfacial regions (midfacial hypoplasia), including a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); an abnormally long vertical groove in the center of the upper lip (philtrum [rarediseases.org]

Treatment

Standard Therapies Treatment The treatment of Chromosome 9, Partial Monosomy 9p is directed towards the specific symptoms that are apparent in each individual. [rarediseases.org]

In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features).[1] Treatment for chromosome 9p deletion is based on the signs and symptoms in each person [rarediseases.info.nih.gov]

Prevention

For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes. [rarediseases.org]

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