Symptoma

Monosomy 13q

Deletion of 13q

The degree of visual impairment depends upon the severity and/or combination of eye abnormalities present. [rarediseases.org]

Download references Author information Author notes Fumio Teramura Present address: Shizuoka Prefectural Children's Hospital, Shizuoka, Japan Affiliations Department of Human Genetics, National Institute of Genetics, Mishima, Japan Shigehiro Oka & Yasuo [nature.com]

However, the rearranged chromosome 14 was involved in IGH deletions in 15 cases and the normal chromosome 14 in only a single case in the present study. [ncbi.nlm.nih.gov]

  • Epilepsy

    March 1, 2008 Arch Ophthalmol. 2008;126(3):431-432. doi:10.1001/archopht.126.3.431 We recently encountered a case of developmental glaucoma with systemic malformations including polydactyly, retained testis, hydronephrosis, and epilepsy. [jamanetwork.com]

  • Surgical Procedure

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

  • Congestive Heart Failure

    Restriction of salt in the diet, drugs that help to eliminate excessive fluid from the body (diuretics), and/or bed rest may also be effective therapies for congestive heart failure. [rarediseases.org]

  • Failure to Thrive

    Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), abnormal enlargement of the liver (hepatomegaly), and/or failure to thrive. [rarediseases.org]

  • Cardiomegaly

    Maternal serum alpha‐fetoprotein (AFP) screening at 19 weeks' gestation demonstrated a high level of 2·5 multiples of the median (MOM) and ultrasonography at 27 weeks' gestation showed severe intrauterine growth retardation, cardiomegaly, an occipital [obgyn.onlinelibrary.wiley.com]

    X-ray studies may reveal abnormal enlargement of the heart (cardiomegaly) or malformation of other heart structures. An EKG, which records the heart’s electrical impulses, may reveal abnormal electrical patterns. [rarediseases.org]

  • Hypertension

    At 2 months of age, he was admitted to another hospital and developmental glaucoma was suspected based on findings of enlarged corneal diameter, ocular hypertension, and bilateral abnormal optic discs. [jamanetwork.com]

  • Hepatomegaly

    Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), abnormal enlargement of the liver (hepatomegaly), and/or failure to thrive. [rarediseases.org]

  • Corneal Edema

    There were Haab striae but no embryotoxon or corneal edema in both corneas. The vertical cup to disc ratio was 0.95. The pupil, lens, retina, and vitreous appeared normal bilaterally. Trabeculotomy was performed in both eyes on the same day. [jamanetwork.com]

  • Enlargement of the Liver

    Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), abnormal enlargement of the liver (hepatomegaly), and/or failure to thrive. [rarediseases.org]

In some cases, treatment may include surgical repair of certain malformations. [rarediseases.org]

In conclusion, this study has demonstrated the importance of interphase FISH analysis in the identification of prognostically significant abnormalities for the implementation of stratified treatment approaches in the management of myeloma patients. [ncbi.nlm.nih.gov]

The prognosis of MM patients is dependent on several factors including the patient’s age, the stage of disease and genetic alterations. [ncbi.nlm.nih.gov]

Drugs such as digoxin may help to prevent irregular heartbeats and excessively rapid heartbeats (tachycardia). [rarediseases.org]