PMC9159177_01
Triallelic patterns at locus D5S818, D18S51, D6S1043, and FGA genotype as depicted by the ABI GeneMapper v3.2 software, including the patient's (a) father, (b) mother, (c) sister, and (d) the patient.
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Consistent results were obtained with the SiFaSTRTM 23-plex system (Figure S1). The STR results of the patient and his parents indicated that the four triallelic patterns were all inherited from the father, and the mother's inheritance was normal; furthermore, the STR peak signal data (Figure 1, Table S2) illustrated that the sum of the peak chart areas of the two types inherited from the father was comparable to those of the mother, belonging to the type 1 triallelic pattern.
Family pedigree with the DNA profiles of the locus D5S818, D18S51, D6S1043, and FGA.
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The STR results of the patient and his parents indicated that the four triallelic patterns were all inherited from the father, and the mother's inheritance was normal; furthermore, the STR peak signal data (Figure 1, Table S2) illustrated that the sum of the peak chart areas of the two types inherited from the father was comparable to those of the mother, belonging to the type 1 triallelic pattern. A total of four types including D5S818, D18S51, D6S1043, and FGA were found to exhibit the triallelic pattern (Figure 2).
G-banded karyogram of 20 marrow cells at metaphase of the patient. Arrow indicates the missing chromosome 7.
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Also, conventional cytogenetic analysis of bone marrow cells at the time of diagnosis showed 45, XY, -7(20) (Figure 3).