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Chromosome 10 ring; Chromosome 10, distal trisomy 10q; Chromosome 10, monosomy 10p; Chromosome 10, monosomy 10q; Chromosome 10, trisomy 10p; Chromosome 10, trisomy 10pter p13; Chromosome 10, trisomy 10q; Chromosome 10, uniparental disomy of; Chromosome 10p terminal deletion syndrome; Chromosome 11, deletion 11p; Chromosome 11, partial trisomy 11q
For example, carriers of Robertsonian translocations involving chromosome 21 have a higher risk of having a child with Down syndrome. This is known as a 'translocation Downs'. This is due to a mis-segregation (nondisjunction) during gametogenesis. The mother has a higher (10%) risk of transmission than the father (1%).
About 10% of individuals had cardiac anomalies, which seemed to be a very uncommon occurrence, with situs abnormalities occurring in few situations. [11] Rarely or sporadically, a number of other abnormalities have been documented, most frequently for deletion 18p due to an imbalanced translocation and concurrent partial trisomy. [1]
Gonadal dysgenesis; Specialty: Medical genetics : Diagnostic method: pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family history
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Human conditions due to monosomy: Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. 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.
The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome. [4] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.
Severe internal disease is rare in trisomy X. Genitourinary conditions are more common than in the general population, particularly kidney and ovary malformations. [3] The autoimmune disease SLE is more common in women than men by a factor of 9 and the risk is further exacerbated in Trisomy X by a factor of approximately 2.5.