No abstract available.
Mass Screening*

No abstract available.
Mass Screening*

No abstract available.

No abstract available.
Flow Cytometry* ; Microscopy*

No abstract available.
Flow Cytometry* ; Microscopy*

No abstract available.
Blood Donors* ; Chungcheongnam-do* ; Humans

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.
Child ; Autism Spectrum Disorder ; Chromosome Aberrations ; Coat Protein Complex I ; Consensus ; Cytogenetics ; Diagnostic Tests, Routine ; Genetic Counseling ; Genomic Structural Variation ; Humans ; Microarray Analysis ; Mosaicism ; Prenatal Diagnosis ; Statistics as Topic

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
Arm ; Brain ; Child, Preschool ; Cleft Lip ; Ear ; Foot ; Humans ; Hypertelorism ; Karyotype ; Korea ; Magnetic Resonance Imaging ; Male ; Microcephaly ; Optic Nerve ; Palate ; Phenotype ; Ring Chromosomes* ; Scoliosis

A case of acute biphenotypic leukemia with mixed blast morphology and combined myeloid and T-lymphoid features is reported. The leukemic cells consisted of small to medium sized hand mirror shaped blasts and large blasts with cytoplasmic granules and some cytoplasmic inclusion bodies. The blast cells were found to be immature T-lymphoid cells(CD2+ and CD7+) that also expressed the myeloid antigens such as CD13 and CD33. In the review of the literatures, additional cases of acute mixed leukemia-hand mirror variant show strong expression of adhesion moleules such as CD2, CD7, and CD11b. Cytogenetic studies revealed a trisomy 4 previously described in acute undifferentiated myeloblastic leukemia with hand-mirror cells. This case represents a morphologically and phenotypically distinct subtype of acute biphenotypic leukemia with hand mirror morphologic features. Adult acute leukemia cases with hand mirror morphology should be considered the possibility of mixed lineage leukemia and processed further studies.
Adult* ; Cytogenetics ; Cytoplasmic Granules ; Granulocyte Precursor Cells ; Hand ; Humans ; Inclusion Bodies ; Leukemia ; Leukemia, Biphenotypic, Acute ; Trisomy