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Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. [4] They can be caused by various environmental factors.
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
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.
It is the cause of 8% of all congenital disorders. [1] Maternal age affects the chances of having a pregnancy with Down syndrome. [4] At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44. [4]
In a systematic review including two prospective studies of 47,XYY boys identified by newborn screening programs and one retrospective study of 47,XYY men identified by screening men over 184 cm (6 ft 1 ⁄ 2 in) in height, forty-two 47,XYY boys and men had an average 99.5 verbal IQ and 106.4 performance IQ. [16] [18] [19] [20]
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
Family history of a chromosomal abnormality or other genetic disorder; Parents are known carriers for a genetic disorder; Advanced maternal age (maternal age above 35). AMA is associated with increase risk of Down's syndrome and at age 35, risk is 1:400. [citation needed] Screening tests are usually carried out first before deciding if CVS ...
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