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Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Although rare, deletions involving chromosome 13q are among the most commonly observed monosomies [2] Chromosome 13, Partial Monosomy 13q appears to affect females slightly more frequently than males. Since the disorder was originally reported in 1963, more than 125 cases have been recorded in the medical literature. [2]
List of genetic disorders; List of OMIM disorder codes; 0–9. 2q37 monosomy; 3-Hydroxyisobutyryl-CoA deacylase deficiency; 15q overgrowth syndrome; A. ACDC (medicine)
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
This list may not reflect recent changes. ... 0–9. 1p36 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 monosomy; 3p deletion syndrome; 3q29 microdeletion ...
A genetic disorder is a health problem caused by ... X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X ...
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]