trisomy 22


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trisomy 22

a congenital condition caused by the presence of an extra chromosome 22 in the G group, characterized by psychomotor retardation and various developmental anomalies. Common defects include microcephaly, micrognathia, hypotonia, hypertelorism, abnormal ears with preauricular tags or fistulas, and congenital heart disease. In partial trisomy 22 the extra chromosome is much smaller than the normal pair and causes coloboma of the iris, anal atresia, or both, as well as various other defects. See also cat-eye syndrome.
References in periodicals archive ?
Notably, researchers linked 22 samples with early miscarriage (occurring before 11 or 12 weeks gestation), including 13 of 14 samples with trisomy 15 and 3 of 5 samples with trisomy 22.
Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.
However, the rate of trisomy 22 and the total rate of trisomies 21, 13, and 18 (the number of trisomy 21 plus trisomy 13 and trisomy 18 together) showed significantly different in two groups.
The most frequent aneuploidy was trisomy 16 (121/310), followed by trisomy 22.
However, the rates of trisomy 22 and the total rate of trisomies 21, 13, and 18 of the advanced maternal age group were significantly higher than those of the young maternal age group ( P = 0.
In another case, sequencing results suggested trisomy 22; this led to the identification of trisomy 22 in 3 placental biopsy sites with disomy 22 in the cord blood.
In contrast, patients harboring inv(16) occasionally demonstrate trisomy 22, as well as trisomy of chromosomes 8 and 21.
Patients with inv(16) and 1 or more secondary chromosome abnormalities, especially trisomy 22, had a lower risk of relapse than those with inv(16) solely.
Important Prognostic Factors for t(8;21) and inv(16) Acute Myeloid Leukemia t(8;21) inv(16) * KIT gene mutation (exon 17) * KIT gene mutation (exon 17) adversely affects the prognosis adversely affects the prognosis * Prognostic significance of * Patients with trisomy 22 have del(9q) is debatable a lower risk of relapse
Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling.