Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: Identification of one case of trisomy 20 mosaicism confined to keratinocytes

Clinical and Experimental Dermatology

Volumn 34, Issue 7, 2009, Pages 823-829

  Taibjee, S M ^a   Hall, D ^b   Balderson, D ^b   Larkins, S ^c   Stubbs, T ^c   Moss, C ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOME MOSAICISM; CELL CULTURE; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC VALUE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; HYPOPIGMENTATION; KARYOTYPING; KERATINOCYTE; PHENOTYPE; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; SKIN BIOPSY; SKIN FIBROBLAST; TRISOMY;

ADOLESCENT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; FIBROBLASTS; HUMANS; KERATINOCYTES; MALE; MOSAICISM; PIGMENTATION DISORDERS; PROSPECTIVE STUDIES; TRISOMY;

EID: 70349511050     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2009.03208.x     Document Type: Article

References (27)

1. Ito M. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Jpn J Dermatol 1951 61 : 31 2.
2. Thomas IT, Frias JL. Hypomelanosis of Ito and chromosomal mosaicism in fibroblasts. Lancet 1986 2 : 343.
3. Loomis CA. Linear hypopigmentation and hyperpigmentation including mosaicism. Semin Cutan Med Surg 1997 16 : 44 53.
4. Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996 132 : 1167 1170.
5. Happle R. Mosaicism in human skin. Arch Dermatol 1993 129 : 1460 1470.
6. Moss C. Mosaicism and linear lesions. Chapter 62. In : Dermatology (Bolognia JL, Jorizzo JL, Rapini RP, eds). New York : Mosby, 2003 869 885.
7. Blaschko A. Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Breslau : Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft VII Congress, 1901.
8. Jackson R. The lines of Blaschko: a review and reconsideration. Br J Dermatol 1976 95 : 349 360.
9. Moss C, Savin J. Hypomelanosis of Ito (mosaic dyspigmentation). Chapter 1. In : Dermatology and the New Genetics (Moss C, Savin J, eds). Oxford : Blackwell Science, 1995 18 20.
10. Moss C, Larkins S, Stacey M et al. Epidermal mosaicism and Blaschko's lines. J Med Genet 1993 30 : 752 755.
11. Moss C, Jones DO, Blight A, Bowden PE. A birthmark due to cutaneous mosaicism for a keratin 10 mutation. Lancet 1995 345 : 596.
12. Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism. Am J Med Genet 1999 85 : 330 333.
13. Atherton DJ, Moss C. Naevi and other developmental defects. Chapter 15. In : Textbook of Dermatology (Burns T, Breathnach S, Cox N, Griffiths C, eds 7th edn, Vol. 1. Oxford : Blackwell Publications, 2004 15.1 15.114.
14. Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004 151 : 269 282.
15. Pellegrino JE, Schnur RE, Kline R et al. Mosaic loss of 15q11-q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? Hum Genet 1995 96 : 485 489.
16. Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 1994 103 (5 Suppl. 141 143.
17. Taibjee SM, Hall D, Balderson B et al. Hypomelanosis of Ito caused by trisomy 20 mosaicism demonstrated by keratinocyte cytogenetics. Br J Dermatol 2006 155 : 649.
18. Lacour JP, Pedeutour F, Aberdam E et al. Cytogenetic and functional studies of melanocytes in pigmentary mosaicism of the Ito type: preliminary results. Br J Dermatol 2003 149 (Suppl. 64 76.
19. Devriendt K, Matthijs G, Meireleire J et al. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20). Genet Couns 1998 9 : 283 286.
20. Baty BJ, Olson SB, Magenis E, Carey JC. Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. Am J Med Genet 2001 99 : 210 216.
21. Steinberg Warren N, Soukup S, St King JLJ et al. Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome. Prenat Diagn 2001 21 : 1111 1113.
22. Hartmann A, Hofmann UB, Hoehn H et al. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis. Pediatr Dermatol 2004 21 : 636 641.
23. Hsu LYF, Kaffe S, Perlis TE. Trisomy 20 mosaicism in prenatal diagnosis - a review and update. Prenat Diagn 1987 7 : 581 596.
24. Hsu LYF, Kaffe S, Perlis TE. A revisit of trisomy 20 mosaicism in prenatal diagnosis - an overview of 103 cases. Prenat Diagn 1991 11 : 7 15.
25. Wallerstein R, Yu MT, Neu RL et al. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype and phenotype correlations. Prenat Diagn 2000 20 : 103 122.
26. Combi R, Dalpra L, Tenchini ML, Ferini-Strambi L. Autosomal dominant nocturnal frontal lobe epilepsy. J Neurol 2004 251 : 923 934.
27. Happle R. The lines of Blaschko: a developmental pattern visualizing functional X-chromosome mosaicism. Curr Probl Dermatol 1987 17 : 5 18.