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Table 2 Genotype-Phenotype correlation

From: Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

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)

  1. MP Pigmentary Mosaicism, BL Blaschko Lines, ID Developmental Delay, DFF Dysmorphic Facial Features, M-S Musculoskeletal alterations, PB Peripheral Blood, LS Light Skin (hypopigmented), DS Dark Skin (hyperpigmented). aPatients previously reported