Microdeletion syndrome
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A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or
Twins in Poland with 22q11 microdeletion syndrome
Karyotype
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A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the p
Microdeletion syndrome
…karyotyping (2–5 Mb). Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques. DiGeorge syndrome or velocardiofacial syndrome – most common microdeletion syndrome…
Micrograph of human chromosomes before further processing. Staining with Giemsa confers a purple color to chromosomes, but micrographs are often converted to grayscale to facilitate data presentation and make comparisons of results from different laboratories.
Spectral human karyotype