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Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Individuals with ring 18 have one of their two copies of chromosome 18 that has formed the shape of a ring. 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 ...
Tethered cord syndrome ( TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. [ 1] Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations ( diastematomyelia ), occult, dermal sinus tracts, and dermoids . All forms involve the pulling of the spinal cord at the base ...
1 in 40,000 to 42,000 births, females more affected than males. Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [1] : 578 It can result in a limited ability to move the neck and ...
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]
Five-year survival ~ 70% [4] Frequency. 1 per 1 million people (US) [4] Ewing sarcoma is a type of pediatric cancer [5] that forms in bone or soft tissue. [1] Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. [2] The most common areas where it begins are the legs, pelvis, and chest wall. [4]
1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities, including developmental delay , dysmorphic traits, autism spectrum disorder , and congenital cardiac defects. [1] Common facial features include frontal bossing, hypertelorism, and macrocephaly ...
Sadie was recently diagnosed with postural orthostatic tachycardia syndrome (POTS), an incurable condition that brings about a number of symptoms including dizziness, ...