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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.
However, there is a trisomy 9p-related congenital disorder which has only 3 copies of this genetic material due an abnormal chromosome 12 containing duplicate copies rather than a single copy of some genetic material. These individuals have trisomy 9p; they have birth defects similar to, but less severe than, those in tetrasomy 9p. [26]
The number of chromosomes in the cell where trisomy occurs is represented as, for example, 2n+1 if one chromosome shows trisomy, 2n+1+1 if two show trisomy, etc. [2] "Full trisomy", also called "primary trisomy", [2] means that an entire extra chromosome has been copied. "Partial trisomy" means that there is an extra copy of part of a chromosome.
Monosomy 9p (also known as Alfi's Syndrome, 9p Minus or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1] [2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]
The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in the situation of an unbalanced translocation , where an individual carries a derivative chromosome formed through the breakage and fusion of two ...
trisomy Weissenbacher–Zweymüller syndrome: COL11A2: recessive Weyer's ulnar ray/oligodactyly syndrome: recessive Williams syndrome: 7q11.23: dominant 1:10,000 Wilson disease: ATP7B: recessive 1:30,000 Woodhouse–Sakati syndrome: C2ORF37 (2q22.3–q35) recessive Wolf–Hirschhorn syndrome: 4p16.3: dominant, often de novo 1:50,000 Xeroderma ...
Chromosome 11, partial trisomy 11q; Chromosome 11-14 translocation; Chromosome 11p, partial deletion ... Chromosome 9, partial trisomy 9p; Chromosome 9, tetrasomy 9p ...
Marker chromosomes typically occur in addition to the standard 46 chromosomes, making it a partial trisomy or tetrasomy supernumerary chromosome. [4]