trisomy 8


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trisomy 8

a congenital condition associated with the presence of an extra chromosome 8 within the C group. Those with the condition are slender and of normal height and have a large asymmetric head, prominent forehead, deep-set eyes, low-set prominent ears, and thick lips. There is mild to severe mental and motor retardation, often with delayed and poorly articulated speech. Skeletal anomalies and joint limitation, especially permanent flexion of one or more fingers, may occur. There are unusually deep palmar and plantar creases, which are diagnostically significant. Most trisomy 8 individuals are mosaic, with no abnormal or only slight clinical manifestations, or they are only partially trisomic, with part of the extra chromosome 8 missing, and show varying degrees of the clinical symptoms. In general, trisomy 8 is a less severe condition than other trisomies, especially trisomy 13 and trisomy 18, so that mortality is low. Also called trisomy C syndrome.
References in periodicals archive ?
There are a few different chromosomal abnormalities seen in this condition, such as trisomy 8, trisomy 19, monosomy 7, and abnormalities of the long arm of chromosome 3, among others, none of which are specific for this type of leukemia.
The majority of CML cases that progress to blast crisis may acquire additional chromosomal abnormalities, in addition to the BCR-ABL, such as extra copies of the Ph chromosome, trisomy 8 and 19, and i(17)(q10).
1q44), trisomy 6, trisomy 8 10H55 monosomy 13, monosomy 14, monosomy 22, del(16)(q11.
Detected recurrent numerical aberrations were as follows: trisomy 8 in 1 ALL and 4 AML patients; trisomy 21 in 1 AML, 2 MDS, and 4 ALL patients; loss of chromosome Y in 1 AML and 2 ALL patients; loss of chromosome X in 2 MDS patients; gain of X in 3 ALL patients; and trisomy 10 in 2 ALL and 1 AML patients.
Trisomy 8 is the most common single chromosomal abnormality in AML and MDS, representing approximately 6%-11% of these myeloid leukemias.
Acquired trisomy 21 is the second most common trisomy in MDS and AML after trisomy 8.
Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality Cancer Genet Cytogenet 2008;187:57-58.
Among the 54 nonmolar cases, 10 (19%) had an allele pattern suggestive of trisomy (trisomy 7, n = 1; trisomy 13, n = 1; trisomy 16, n = 6; trisomy 18 and trisomy 8, n = 1; trisomy 21, n = 1) (Figure 3, A through E).
We were unable to confirm trisomy 7 in 1 case (case 102) and trisomy 8 in a case with evidence of double trisomy (case 70) owing to lack of available mini STR primers targeting these chromosomes.
Results of Microsatellite Genotyping for 102 Cases Nonmolar N 54 Monospermy 0 Dispermy 0 Additional abnormalities Trisomy 7 (n = 1) Trisomy 8 and trisomy 18 (n = 1) Trisomy 13 (n = 1) Trisomy 16 (n = 7) Trisomy 21 (n = 1) Androgenetic/biparental mosaicism (n = 1) Cross-contamination Fetal (n = 2) Maternal (n = 2) Average No.