Distal trisomy 10q
Distal Trisomy 10q
Distal Trisomy 10q (pronounced: dis-tal try-so-me ten-q) is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 10 is duplicated (trisomic). The term "distal" refers to the duplication occurring towards the end of the chromosome.
Etymology
The term "Distal Trisomy 10q" is derived from the following components: "Distal" (from the Latin "distare", meaning "to stand apart"), "Trisomy" (from the Greek "trisomia", meaning "three bodies"), and "10q" referring to the long arm of the 10th chromosome.
Symptoms and Signs
The symptoms and signs of Distal Trisomy 10q can vary greatly among affected individuals. Common symptoms include intellectual disability, developmental delay, and distinctive abnormalities of the head and facial (craniofacial) area. Other features may include heart defects, kidney abnormalities, and/or additional physical abnormalities.
Diagnosis
Diagnosis of Distal Trisomy 10q is typically made through a genetic test known as chromosomal analysis or karyotyping. This test can identify the presence of an extra (trisomic) segment of chromosome 10q.
Treatment
There is currently no cure for Distal Trisomy 10q. Treatment is symptomatic and supportive, often involving a team of specialists. This may include genetic counseling, physical therapy, occupational therapy, and/or other medical, social, or educational services.
Prognosis
The prognosis for individuals with Distal Trisomy 10q varies depending on the size and location of the duplicated segment of chromosome 10q, as well as the specific symptoms and complications present.
See Also
External links
- Medical encyclopedia article on Distal trisomy 10q
- Wikipedia's article - Distal trisomy 10q
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