PMC5771943_01
Peripheral blood karyotype result belonging to the subject: compatible with 48, XYYY.
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His karyotype was therefore reported as 48, XYYY (Fig. 1).
QF-PCR result indicates extra pair of Y chromosomes. The AMELXY marker amplifies nonpolymorphic sequences on the X (AMELX) and Y (AMELY) chromosomes and can be used to determine the presence or absence of a Y chromosome. AMELXY may be used to assess the relative number of X to Y chromosomes. The ZFYX marker is a nonpolymorphic (non-STR) marker present on both the X and Y chromosomes. These markers may be used to assess the total number of sex chromosomes when informative. It is not possible to determine which allele represents the X or Y chromosome.
CCR3-6-179-g002.jpg
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In order to validate our results, we used QF-PCR, of which the results implied the existence of three Y chromosomes in this patient (Fig. 2).