Question

What is the rarest chromosomal disorder?

Answer 1

Chromosomal disorder:

1. Any condition marked by deformities or malfunctions in any of the body's systems and caused by an aberrant chromosome number or constitution is referred to as a chromosomal disorder.
2. A chromosomal anomaly is any variation from the usual karyotype.
3. Chromosomal disorders are caused by structural or numerical alterations in chromosomes.
4. Aneuploidy (trisomy, monosomy) and euploidy are chromosomal diseases caused by numerical anomalies (haploid, polyploid).
5. Chromosomal disorders caused by structural anomalies include deletions, duplications, inversions, and translocations.
6. The most prevalent chromosomal abnormality is Down syndrome.
7. Proximal 18q- syndrome is a rare chromosomal disorder.

Proximal 18q- syndrome:

1. In proximal 18q- syndrome, there is a deletion of part of the long arm (q) of chromosome 18.
2. The deleted piece occurs near the center of the chromosome.
3. Symptoms of proximal 18q- syndrome are short stature, weak muscles, foot abnormalities, hearing loss, etc.