Patient Code | PM Pattern | Extracutaneous Manifestations | Cytogenetic Analysis | Molecular Analysis | Association with clinical manifestations |
---|---|---|---|---|---|
aPM2 | Broad BL with disseminated hypo and hyperpigmentation in face, dorsum and limbs | ID, ptosis, sacral defects, scoliosis, hypoplastic genitalia, small testes and low weight and length | PB: mos 46, XY, r(7) (p22q36.3) [45]/45, XY,-7 [6]/46,XY, dup(7)(p22q36.3) [2] LS: mos 45, XY, −7 [23]/46, XY, r(7) (p22q36) [17] DS: mos 45, XY, −7 [26] /46, XY, r(7) (p22q36) [29] | 1. arr 7p22.3(113,336–954,145)×1,7q36.1q36.3 (151306863–158,812,247) × 1, (Human Genome Build, hg18). 2. FISH analysis with subtelomeric probe for chromosome 7: ish r(7)(p22q36.3) (VIJyRM2185-,VYJyRM2000-) | 1) 0.8 Mb deletion in 7p22.3 including 8 genes associated with urogenital anomalies 2) 7.5 Mb deletion in 7q36.1: 50 RefSeq genes. Phenotype related: a) SHH, eye anomalies (ptosis in present case) b) MNX1, sacral defects (e.g. Currarino Syndrome: partial fusion S2-S5 vertebrae) (21) |
aPM25 | Fine and whorled BL with disseminated hypo and hyperpigmentation in dorsum and limbs | ID, DFF, scoliosis, hip dysplasia, and low weight | PB: mos 47,XX,+mar [45]/47,XX, + 14 [10]/46,XX [45] LS: mos 47,XX,+mar [7]/46,XX [8] DS: mos 47,XX,+mar [12]/46,XX [14] | 1. arr 14q11.1q11.2(18,127,052-19,927,052)×2~3, (UCSC, h18) 2. FISH with DNA BAC probes for 14q11.2 spectrum green and 14q32.33 spectrum Final result: PB: mos 47,XX,+del(14)(q11.2)[45]/ 47,XX,+ 14[10]/46,XX[45] | Phenotype associated with mosaic trisomy 14 (23) |
PM30 | Fine and whorled BL with hypo and hyperpigmentation in dorsum and inferior limbs | Severe ID, seizures, hypotonia and DFF. | PB: mos 47, XX,+mar [28]/45,X [6] / 46, XX [16] LS: mos 45,X [35] / 47, XX,+mar [2]/ 46, XX [6] DS: mos 45,X [20] / 47, XX,+mar [3]/ 46, XX [13] | 1. arr Xp22.33q28(60,814-155,254,881)× 1[~ 30%], Xp21.1p11.1(36,025,401-58,483,247)×3 [~ 55%] (Human Genome Build 37, hg19) 2. FISH with α-satellite X probe (AbbotMolecular/Vysis) and locus specific probe (p11.22-p11.23) (Agilent Tech, SureFISH) positive. Final result: PB: mos 47, XX, +der(X)(p21.1p11.1) [28]/45,X [6] / 46, XX [16] | Variant of Turner syndrome, severe phenotype as a result of partial functional disomy. Associated in previous study with ID and DFF (24) |
PM53 | Fine and whorled BL with hypo and hyperpigmentation in dorsum and inferior limbs | ID, DFF | PB: 46,XX,del(4)(p16.1p15.3) [50] LS: 46,XX,del(4)(p16.1p15.3) [50] DS: 46,XX,del(4)(p16.1p15.3) [50] | 1. arr 4p16.1p15.32 (10,047,353-17,614,303)× 1, 8p22p21.3 (18,712, 712–19, 523, 339)× 3, (UCSC, hg19) | 1. 0.81 Mb duplication including 3 genes in chromosome 8 without phenotype correlation 2. 7.5 Mb deletion including 30 genes. Phenotype related: a) PPP2R2C associated with ID (25) |