Symptoma

Partial Monosomy 9p

Partial Deletion of Chromosome 9p

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

  • Asymptomatic

    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]

  • Physician

    Years Published 1995, 2001, 2003, 2009 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

  • Surgical Procedure

    The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

  • Inguinal Hernia

    In addition, in some affected infants, there may be protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall (inguinal hernia). [rarediseases.org]

  • 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]

  • Heart Disease

    In severe cases, congenital heart disease may lead to potentially life-threatening complications. In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. [rarediseases.org]

  • 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]

  • Suggestibility

    Diagnosis In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). [rarediseases.org]

  • 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]

  • Cryptorchidism

    In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. [rarediseases.org]

  • Irritability

    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]

  • Seizure

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

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]

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