Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review

Table 1 Overview of cytogenetic and molecular findings

Patient	Cytogenetic analysis
*1	^aPB: 46, XX ^aLS: 46, XX DS: mos 47, XX, + 12 [44]/46, XX [6]
2	^bPB: 46,XY LS: mos 47, XY, + 12 [29]/46, XY [21] DS: mos 47, XY, + 12 [32]/46, XY [18]
3	^bPB: 46, XY LS: mos 47, XY, + 12 [9]/46, XY [41] DS: mos 47, XY, + 12 [17]/46, XY [33] DS aCGH analysis: arr[GRCh38]12p13.33q24.33(64620_133201316) × 2 ~ 3

PB Peripheral Blood; LS Light Skin (hypopigmented); DS Dark Skin (hyperpigmented); MMC mitomycin C; BLE Bleomycin; DEB diepoxybutane
^aAnalysis in 100 metaphases
^bAnalysis in 50 metaphases
*Spontaneous chromosomal aberrations (chromosome and chromatid breaks) were only observed in patient 1. Induced chromosomal aberrations were evaluated following previously described criteria [23]. We observed 0.04% and 0.14% of spontaneous chromosome and chromatid breaks in LS and DS respectively. Induced chromosomal aberrations with MMC, BLE and DEB in peripheral blood were negative

ISSN: 1755-8794