Saturday, 30 November 2019

genetics - Understanding a Chromosomal formula in a karytope analysis



I am reading a medical reporting results of a karyotype analysis. On it it is written:



Chromosomal formula


46,XX,del(7)(q11q36)[12]/46,XX[13]



I understand that 46 is the number of chromosomes, XX refers to the pair of sexual chromosomes, del(7)(q11q36) means a deletion on the long arm of chromosome 7 spanning the bands 11 to 36.


What do [12] and [13] mean?



Answer



Cytogenetic nomenclature is standardized in the International System for Human Cytogenetic Nomenclature. Unfortunately it is not free and my institution does not have access. However, looking at a preview of the 2013 version in Google Books, it would seem that the number in square brackets is the number of cells scored with that karyotype.


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