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Distal 18q- is a rare disorder caused by a deletion of genetic material in the distal section of the long arm of chromosome 18. It affects various systems and causes intellectual disability, congenital anomalies, dysmorphic features, and increased risk of infections and psychiatric conditions.
The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. Because the ring involves deletions of both the long arm (18q-) and the short arm (18p-) of chromosome 18, individuals with ring 18 can have features of both 18p-as well as distal 18q-.
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
Proximal 18q-is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. This deletion involves the proximal (near the centromere ) section of the long arm of chromosome 18 somewhere between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb). [ 1 ]
Learn about chromosome 18, one of the 23 pairs of chromosomes in humans. Find out its length, number of genes, partial gene list, and diseases related to its abnormalities.
Tethered spinal cord syndrome is a group of neurological disorders caused by abnormal stretching of the spinal cord. It can be associated with spina bifida, tumors, or other conditions, and may cause pain, weakness, incontinence, and other symptoms.
The vulval vestibule is the part of the vulva between the labia minora, where the urethra and the vagina open. Learn about its structure, anatomy, and clinical significance, as well as its comparison with other animals.
Disorders of sex development (DSDs) are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. DSDs are subdivided into groups based on the karyotype, and may involve medical interventions and multidisciplinary management.