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Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome

Figure 9

Amino acid changes corresponding to nucleotide sequence of the SRY gene in father of a Turner patient AT1.

In total ∼ 40 SRY recombinant plasmids were sequenced identifying two types of sequences AT1F2 and ATF3. Note that except the change N41I in AT1F2, rest of the amino acid sequence was normal. This highlights de novo status of the amino acid changes detected in the Turner AT1.

Figure 9