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Chromosome 1, trisomy 1q32 qter; Chromosome 1, trisomy 1q42 qter; Chromosome 1, uniparental disomy 1q12 q21; Chromosome 10 – Chromosome 12. 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
the distal deletion, known as the 1q21.1 deletion syndrome; the distal duplication, known as the 1q21.1 duplication syndrome; The CNVs lead to a very variable phenotype and the manifestations in individuals are quite variable. Some people who have a CNV can function in a normal way, while others have symptoms of mental retardation and various ...
Trisomy 9. Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies ( trisomy) of chromosome number 9. It can be a viable condition if trisomy affects only part of the cells of the body ( mosaicism) or in cases of partial trisomy (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of ...
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. [1] Only mosaic cases exist and these usually present with severe symptoms such as intellectual disability, ocular colobomata, microcephaly, and seizures.
Patau syndrome. Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy ...
Tetrasomy 9p. Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. [1] Symptoms of tetrasomy 9p vary widely among affected individuals but typically include varying degrees of delayed ...
Specialty. Medical genetics. Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. [1] [2] It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell.
Genetics. Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1 ...