Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis

Pediatric Dermatology

Volumn 21, Issue 6, 2004, Pages 636-641

  Hartmann, Anke ^a   Hofmann, Uta B ^a   Hoehn, Holger ^a   Broecker, Eva B ^a   Hamm, Henning ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOGRAPHY; ARTICLE; AUTOSOME MOSAICISM; BASAL CELL; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL DISORDER; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERPIGMENTATION; LABORATORY TEST; MALE; MELANOCYTE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SKIN BIOPSY; TISSUE SECTION; TRISOMY; TRISOMY 20 MOSAICISM;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; FIBROBLASTS; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; HYPERPIGMENTATION; MALE; MENTAL RETARDATION; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SKIN; TRISOMY;

EID: 10644233001     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0736-8046.2004.21604.x     Document Type: Article

References (31)

1. Kalter DC, Griffiths WA, Atherton DJ. Linear and whorled nevoid hypermelanosis. J Am Acad Dermatol 1988;19:1037-1044.
2. Iijima S, Naito Y, Naito S, Uyeno K. Reticulate hyperpigmentation distributed in a zosteriform fashion: a new clinical type of hyperpigmentation. Br J Dermatol 1987;117:503-510.
3. Alimurung FM, Lapenas D, Willis I, Lang P. Zebra-like hyperpigmentation in an infant with multiple congenital defects. Arch Dermatol 1979;115:878-881.
4. Rower JM, Carr RD, Lowney ED. Progressive cribriform and zosteriform hyperpigmentation. Arch Dermatol 1978;114:98-99.
5. Kubota Y, Shimura Y, Shimada S, Tamaki K, Amamiya S. Linear and whorled nevoid hypermelanosis in a child with chromosomal mosaicism. Int J Dermatol 1992;31:345-47.
6. Verghese S, Newlin A, Miller M, Burton BK. Mosaic trisomy 7 in a patient with pigmentary abnormalities. Am J Med Genet 1999;87:371-374.
7. 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.
8. Chemke J, Rappaport S, Etrog R. Aberrant melanoblast migration associated with trisomy 18 mosaicism. J Med Genet 1983;20:135-137.
9. Komine M, Hino M, Shiina M, Kanazawa I, Soma Y, Tamaki K. Linear and whorled naevoid hypermelanosis: a case with systemic involvement and trisomy 18 mosaicism. Br J Dermatol 2002;146:500-502.
10. Devriendt K, Matthijs G, Meireleire J, Roelen L, van Buggenhout G, Fryns JP. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,+18,+20). Genet Couns 1998;9:283-286.
11. Kuwahara RT, Henson T, Tunca Y, Wilroy SW. Hyperpigmentation along the lines of Blaschko with associated chromosome 14 mosaicism. Pediatr Dermatol 2001;18:360-361.
12. Hsu LYF, Kaffe S, Perils TE. Trisomy 20 mosaicism in prenatal diagnosis - a review and update. Prenat Diagn 1987;7:581-596.
13. 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.
14. Hofmann U, Wagner N, Grimm T, Bröcker E-B, Hamm H. Streifen- und wirbeiförmige nävoide Hypermelanose. Fallbeschreibung und Literaturübersicht. Hautarzt 1998; 49:408-412.
15. Bolognia JL, Orlow SJ, Glick SA. Lines of Blaschko. J Am Acad Dermatol 1994;31:157-190.
16. Loomis CA. Linear hypopigmentation and hyperpigmentation, including mosaicism. Semin Cutan Med Surg 1997;16:44-53.
17. Findlay GH, Moores PP. Pigment anomalies of the skin in the human chimaera: their relation to systematized naevi. Br J Dermatol 1980;103:489-498.
18. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet 1989;45:193-205.
19. Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 1994;103:S141-S143.
20. Lyon MF. X-chromosome inactivation and developmental pattern in mammals. Biol Rev 1972;47:1-35.
21. Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985;70:200-206.
22. Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993;129:1460-1470.
23. Miny P, Pawlowitzki ICH. Trisomy 20 mosaicism. Prenat Diagn 1984;4:411-419.
24. Holzgreve W, Golabi M, Bradley J. Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. Clin Genet 1986;29:342-344.
25. Møllekaer AM, Jensen PKA, Friedrich U, Bruun-Petersen G. Four cases of the prenatal diagnosis of trisomy 20 mosaicism with a follow up investigation. Clin Genet 1984;26:265-268.
26. Tolmie JL, Ferguson-Smith ME, Gilmore D, Ferguson-Smith MA. Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism. Prenat Diagn 1987;7:597-601.
27. Van Dyke DL, Roberson JR, Babu VR, Weiss L. Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts. Prenat Diagn 1989;9:601-602.
28. Brothman AR, Rehberg K, Storto PD, Phillips SE, Mosby RT. Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male. Clin Genet 1992;42:47-49.
29. Reish O, Wolach B, Amiel A, Kedar I, Dolfin T, Fejgin M. Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? Am J Med Genet 1998;77:72-75.
30. Steinberg Warren N, Soukup S, King JL, Dignan PSJ. Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome. Prenat Diagn 2001;21:1111-1113.
31. 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.