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Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three ( trisomic) or ...
Full. Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing ( meiosis I or II) to form egg and sperm cells ( gametogenesis ). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46.
Chromosome 15q trisomy. Chromosome 15q duplication is an extremely rare genetic disorder in which there is an excess copy of a segment of DNA found on the long ("q") arm of human chromosome 15. As a result, affected cells contain a total of 3 copies of the duplicated bases, instead of the usual 2 copies - one inherited from the mother and one ...
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; Chromosome 11-14 ...
10q partial trisomy; 11 beta hydroxylase deficiency; 11 beta hydroxysteroid dehydrogenase type 2 deficiency; 17 alpha hydroxylase deficiency; 17 beta hydroxysteroide dehydrogenase deficiency; 17-beta-hydroxysteroid dehydrogenase deficiency, rare (NIH) 17q21.31 microdeletion syndrome; 18-Hydroxylase deficiency, rare (NIH) 18p deletion syndrome
in human male karyogram. Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells .
Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Marker chromosome. A marker chromosome (mar) is a small fragment of a chromosome which generally cannot be identified without specialized genomic analysis due to the size of the fragment. [1] The significance of a marker is variable as it depends on what material is contained within the marker. [2] The large majority of these marker chromosomes ...