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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 ...
Choledochoduodenostomy. Choledochoduodenostomy (CDD) is a surgical procedure to create an anastomosis, a surgical connection, between the common bile duct (CBD) and an alternative portion of the duodenum. [1] In healthy individuals, the CBD meets the pancreatic duct at the ampulla of Vater, which drains via the major duodenal papilla to the ...
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 ...
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]
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1] [2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]
H&E stain. Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. [4] Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles ...
Y chromosome microdeletion. Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing genes in the Y chromosome. Many men with YCM exhibit no symptoms and lead normal lives. It is present in a significant number of men with reduced fertility. [1] Reduced sperm production varies from oligozoospermia, significant lack of ...