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13q deletion syndrome. 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital ...
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands ...
Partial monosomy 13q. Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in ...
Specialty. Genetics. 22q13 deletion syndrome, known as Phelan–McDermid syndrome ( PMS ), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype) typical of a terminal deletion may ...
1 in 40,000 live births. Chromosome 15q partial deletion is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome 15 is deleted, or partially deleted. [ 1] Like other chromosomal disorders, this increases the risk of birth defects, developmental delay and learning difficulties ...
Acro–dermato–ungual–lacrimal–tooth syndrome. Activation syndrome. Acute aortic syndrome. Acute brain syndrome. Acute chest syndrome. Acute coronary syndrome. Acute HME syndrome. Acute interstitial pneumonitis. Acute motor axonal neuropathy.
Chronic lymphocytic leukemia. Chronic lymphocytic leukemia ( CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell ). [ 2][ 8] Early on, there are typically no symptoms. [ 2] Later, non-painful lymph node swelling, feeling tired, fever, night sweats, or weight loss for no clear reason may occur ...
Chromosomal deletion syndrome. Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using ...