BACKGROUND Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates. Detection of fetal trisomy 18 and 13 has been reported as well but seems to be less accurate with the use of this approach. The reduced accuracy can be explained by PCR-introduced guanine-cytosine (GC) bias influencing sequenc...

Chronic lymphocytic leukemia (CLL) is one of the most prevalent B-cell cancers for people over age 65. CLL commonly comorbid with trisomy 12, as reported in up to 20% cases. In our case, 12 was incidentally found on this patient. Its pathophysiology quite unclear but has played a role side effect profile CLL. Trisomy been shown have increased risk effects like thrombocytopenia, Richter transfor...

Trisomy 8 is a common anomaly in bone marrow (BM) cells of patients with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), or acute nonlymphocytic leukemia (ANLL). We studied the efficacy of fluorescence in situ hybridization (FISH) detection of trisomy 8 in patients with MPD, MDS, or ANLL using directly labeled fluorescent alpha-satellite and whole chromosome paint (WCP) DNA...

Trisomy 16 is thought to be incompatible with fetal survival. A boy with mosaic trisomy 16 who lived for 11 weeks is reported. Chromosome analysis was carried out on skin fibroblasts grown during life and confirmed on samples taken at necropsy. We believe that this is the first report of mosaic trisomy 16 that has been confirmed by cytogenetic banding.

A human myeloid cell line with trisomy 8 was newly established from overt myelogenous leukemia arising in myelodysplastic syndrome. The cells of this cell line showed immature myelocyte characteristics. The karyotype retained trisomy 8. This cell line could improve understanding of the pathophysiology of myelogenous leukemia with trisomy 8.

down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. the use of two or more str markers related to chromosome 21 facilitates the diagnosis of down syndrome within about six hours from the collection of the samples. this is the first study has been performed in iranian population to assess the diagnostic value of using small tandem repe...

An abnormal female infant, who survived for 10 months with almost complete trisomy 16p and monosomy of sub-band 21q22.3, is described. The chromosome anomaly was the result of an unbalanced segregation of a maternal balanced translocation t(16;21)(p11;q22.3). The partial monosomy was considered to have had little or no adverse phenotypic effect. Cases with trisomy of chromosome 16 material are ...

Trisomy X is a sex chromosomal abnormality with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1000 female births. There is considerable variation in the phenotype, from asymptomatic and very mildly affected to significant physical and psychological f...

The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnos...