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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. [2] It was first described by Jérôme Lejeune in 1963. [3]
Chromosome 16. Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2]
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5.
It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3] Many of those affected die before birth. [3] Some studies suggest that more babies that survive to birth are female. [2] Survival beyond a year of life is around 5 ...
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]. [3] Features include a distinct craniofacial phenotype and intellectual disability .
Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
What is the life expectancy for patients with Lejeune’s syndrome? -ErinHowarth 00:17, 26 November 2009 (UTC) The above question was probably asked because of the reference in the [Telomerase reverse transcriptase] article. Telomerase is of course essential for embryonic growth and the maintenance of stem cells.