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Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. Humans, like all sexually reproducing species, have somatic cells that are in diploid [2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies.
At present, treatment for distal 18q- is symptomatic, meaning the focus is on treating the signs and symptoms of the conditions as they arise. To ensure early diagnosis and treatment, people with distal 18q- are suggested to undergo routine screenings for thyroid, hearing, and vision problems.
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]
Signs and symptoms. Ring 18 causes a wide range of medical and developmental concerns. [3] As discussed above, people with ring 18 can have features of both distal 18q- and 18p-. The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations between people. [4]
1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome ( FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3] [4] Physical features may include a long and narrow face, large ears ...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. [1] [12] There are three types of Down syndrome, the ...
Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms. Mosaic trisomy 8 has been reported in rare cases of Rothmund–Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3. The syndrome is "characterized by skin atrophy ...
Distal 10q deletion syndrome Dolichocephaly Microcephaly Distal monosomy 7p Distal trisomy 1p36 Metopic Microcephaly Distal trisomy 5q Microcephaly Distal symphalangism
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome. Common traits include borderline to ...
Adult-AMKL commonly occurs in adults in their sixties and seventies but may be seen in adolescents as young as 13. Its diagnosis can be suspected in cases that have either a prior history of MPN or a history or current findings indicating the presence of mediastinal blast cell tumor.