Pigmentary mosaicism with mosaic chromosome 5p tetrasomy

British Journal of Dermatology

Volumn 149, Issue 2, 2003, Pages 414-416

  Hansen, Lars Kjærsgård ^a   Brandrup, F ^a   Rasmussen, K ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Dyspigmentation; Hyperpigmentation; Lines of Blaschko; Pigmentary mosaicism

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CELL CULTURE; CEREBROSPINAL FLUID EXAMINATION; CHILD HOSPITALIZATION; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CONVULSION; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; ENCEPHALITIS; FACE DYSMORPHIA; FEMALE; FOLLOW UP; HUMAN; HYPERPIGMENTATION; INTELLIGENCE TEST; KARYOTYPE; LABORATORY TEST; LYMPHOCYTE; MOTOR DEVELOPMENT; NEUROLOGIC DISEASE; PIGMENTARY MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR PERFORMANCE; SEIZURE; SKIN BIOPSY; SKIN DISEASE; SKIN FIBROBLAST; TETRASOMY;

ANEUPLOIDY; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; HYPERPIGMENTATION; MOSAICISM; SEIZURES;

EID: 0041411160     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05531.x     Document Type: Article

References (10)

1. Donnai D. Incontinentia pigmenti and pigmentary mosaicism. In: Textbook of Pediatric Dermatology (Harper J, Oranje A, Prose N, eds), Vol. 2. Oxford: Blackwell Science, 2000: 1237-47.
2. Stanley WS, Powell CM, Devine GC et al. Mosaic 5p tetrasomy. Am J Med Genet 1993; 45: 774-6.
3. Sijmons RH, Leegte B, van Lingen RA et al. Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia minor anomales, and an additional isochromosome 5p [46.XY/47.XY.+ i(5p)]. Am J Med Genet 1993; 47: 559-62.
4. Lorda-Sanchez I, Villa A, Urioste M et al. Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl. Am J Med Genet 1997; 68: 481-4.
5. Harrison KJ, Teshima IE, Silver MM et al. Partial tetrasomy with triplication of chromosome (5)(p14-p15.33) in a patient with severe multiple congenital anomalies. Am J Med Genet 1998; 79: 103-7.
6. Happle R. Principles of genetics, mosaicism and molecular biology. In: Textbook of Pediatric Dermatology (Harper J. Oranje A. Prose N. eds). Vol. 2. Oxford: Blackwell Science, 2000: 1037-53.
7. Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 1993; 129: 1460-70.
8. Moss C, Larkins S, Stacey M et al. Epidermal mosaicism and Blaschko's lines. J Med Genet 1993; 30: 752-5.
9. Yu LC, Moore DH, Magrane G et al. Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH). Cytometry 1997; 28: 191-7.
10. Park JP, Barefoot KH, Ornvold K et al. Prenatal diagnosis of mosaic tetrasomy 5p. Prenat Diagn 2001; 21: 351-3.