Digital Health Assistant & Symptom Checker | Symptoma
0%
Restart

Are you sure you want to clear all symptoms and restart the conversation?

About COVID-19 Jobs Press Scholarship Terms Privacy Imprint Medical Device Language
Languages
Suggested Languages
English en
Other languages 0
2.1
Monosomy 4q
Chromosome 4q Deletion Syndrome

Presentation

Mild microcephaly may be present. [ojrd.biomedcentral.com]

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

Gastrointestinal

  • Failure to Thrive

    Associated abnormalities may include impaired sucking and swallowing, failure to grow and gain weight at the expected rate (failure to thrive), upper airway obstruction, sudden absence of spontaneous breathing (apnea), insufficient oxygen supply to body [rarediseases.org]

Psychiatrical

  • Delusion

    These include aggression, hearing speech that is not present (verbal hallucinations), mood swings, and delusions. Not all people with chromosome 4q deletion have these symptoms, and symptoms can vary greatly. [rarediseases.org]

  • Psychiatric Symptoms

    Some children with chromosome 4q deletion have psychiatric symptoms. These include aggression, hearing speech that is not present (verbal hallucinations), mood swings, and delusions. [rarediseases.org]

  • Mood Swings

    These include aggression, hearing speech that is not present (verbal hallucinations), mood swings, and delusions. Not all people with chromosome 4q deletion have these symptoms, and symptoms can vary greatly. [rarediseases.org]

Treatment

For example, most children with (del)4q21.1-21.3 do not have heart issues · Neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) Treatments Treatments Most treatments are symptomatic, but it [internationalpain.org]

Standard Therapies Treatment The treatment of Chromosome 4, Monosomy Distal 4q is directed toward the specific symptoms and findings that are apparent in each individual. [rarediseases.org]

Prognosis

PMID: 11038438 Prognosis Fritz B, Greber-Platzer S, Frischer T, Streubel B, Gröblacher J, Amann G, Ventruba P, Rehder H, Fonatsch C Am J Med Genet 2000 Oct 2;94(4):271-80. doi: 10.1002/1096-8628(20001002)94:4<271::aid-ajmg2>3.0.co;2-y. [ncbi.nlm.nih.gov]

Keywords: Cytogenetics; MM; Monosomy; Prognosis; Survival. Copyright © 2016 Elsevier Inc. All rights reserved. [pubmed.ncbi.nlm.nih.gov]

Prognosis The prognosis is poor for those patients with severe brain malformations; most often they die in the newborn period. [ojrd.biomedcentral.com]

Etiology

[from SNOMEDCT_US] Etiology Novo-Filho GM, Montenegro MM, Zanardo ÉA, Dutra RL, Dias AT, Piazzon FB, Costa TV, Nascimento AM, Honjo RS, Kim CA, Kulikowski LD Cytogenet Genome Res 2016;149(4):241-246. Epub 2016 Sep 24 doi: 10.1159/000448905. [ncbi.nlm.nih.gov]

Epidemiology

Epidemiology More than 150 patients have been reported worldwide and most cases are no longer subject to publication. The incidence of the disorder could be estimated as about 1:50,000 live-born infants. The female to male ratio is 3/2. [ojrd.biomedcentral.com]

Prevention

In individuals with seizures, anticonvulsant medications may be administered to help prevent, reduce, or control seizure episodes. Early intervention may also be important in ensuring that affected children reach their potential. [rarediseases.org]

Languages
Suggested Languages
English en
Other languages 0
2.1
About Symptoma.com COVID-19 Jobs Press Scholarship
Contact Terms Privacy Imprint Medical Device