BIOL 2040 Lecture Notes - Lecture 15: 49,Xxxxx, 48, Xxxx, Triple X Syndrome
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Autosomal set: this refers to the full set of autosomes in an organism. So for humans who are diploid, we have 2 autosomal sets, one from mother and one from father. Drosophila is also diploid, so it also has 2 autosomal sets. This was confusing because set can also refer to pair, in which case humans would have 22 autosomal pairs (2 sets) of chromosomes. Sry gene: responsible for male sex in humans. All fetuses start female, then sry in par (pseudoautosomal) region turns x into y. Sry is y-linked because it is found on the y chromosome. Turner syndrome: 45,x (karyotype notation: # chromosomes, then list all sex chromosomes) Other karyotypes: 47,xxx (triple x female); 48, xxxx (quadruple female), 49, xxxxx(poly. 46, xx should be typical female, however there are 46, xx males! If somehow a piece of y chromosome got transferred to either x or a chromosomes. Androgen insensitivity syndrome (ais): sry missing in 46, xy karyotype.