Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 993-996

  Dhar, Shweta U ^a   Robbins Furman, Patricia ^a   Levy, Moise L ^a,b   Patel, Ankita ^a   Scaglia, Fernando ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DELL INC   (United States)

^c Texas Children's Hospital   (United States)

Author keywords

Developmental delay; Microarray; Mosaic tetrasomy 13q; Phylloid hypomelanosis; Precocious puberty

Indexed keywords

CEREBROSIDE SULFATASE; GALACTOSYLCERAMIDASE; RNA;

ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; GLOBOID CELL LEUKODYSTROPHY; GYNECOMASTIA; HUMAN; HYPOMELANOSIS; LEUKOENCEPHALOPATHY; MICROARRAY ANALYSIS; PHYLLOID HYPOMELANOSIS; PHYSICAL EXAMINATION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; TETRASOMY; TETRASOMY 13Q MOSAICISM;

ANEUPLOIDY; CHILD; CHROMOSOMES, HUMAN, PAIR 13; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; HYPOPIGMENTATION; MOSAICISM; PUBERTY, PRECOCIOUS; SYNDROME;

EID: 66849104470     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32758     Document Type: Article

References (19)

1. Barwell J, Mazzaschi R, Bint S, Ogilvie CM, Elmslie F. 2004. A new neo- centromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype. Am J Med Genet Part A 130A:295- 298.
2. Bouchard B, del Marmol V, Jackson IJ, Cherif D, Dubertret L. 1994. Molecular characterization of a human tyrosinase-related protein-2 cDNA. Patterns of expression in melanocytic cells. Eur J Biochem 219:127-134.
3. Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15:II. Review of the literature. Am J Med Genet 75:367-381.
4. Ferrier P, Stadler G, Bamatter F, Ferrier S, Buehler E, Klein D. 1964. Congenital asymmetry associated with diploid-triploid mosaicism and large satellites. Lancet 1:80-82.
5. Happle R. 1993. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 129:1460-1470.
6. Happle R. 1995. What is a nevus? A proposed definition of a common medical term. Dermatology 191:1 -5.
7. Happle R. 2000. Phylloid hypomelanosis is closely related to mosaic trisomy 13. Eur J Dermatol 10:511 -512.
8. Happle R. 2001. Phylloid hypomelanosis and mosaic trisomy 13: A new etiologically defined neurocutaneous syndrome. Hautarzt 52:3-5.
9. Horn D, Rommeck M, Sommer D, Korner H. 1997. Phylloid pigmentary pattern with mosaic trisomy 13. Pediatr Dermatol 14:278-280.
10. S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GVN, Daniel A, Warburton PE. 2002. Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet 110:258-267.
11. Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. 2007. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet Part A 143A:1358-1365.
12. Santiago A, Erickson CA. 2002. Ephrin-B ligands play a dual role in the control of neural crest cell migration. Development 129:3621 -3632.
13. Sturm RA, Box NF, Ramsay M. 1998. Human pigmentation genetics: The difference is only skin deep. Bioessays 20:712-721.
14. Taibjee SM, Bennett DC, Moss C. 2004. Abnormal pigmentation in hypomelanosis ofIto and pigmentary mosaicism: The role ofpigmentary genes. Br Jr Dermatol 151:269-282.
15. Teplitz RL, Miller D, Hansson KM, Rundall TS. 1967. A human ring D chromosome with associated multiple congenital abnormalities. J Pe-diatr 70:936-941.
16. Varela MA, Sternberg WH. 1969. Ring chromosome in two infants with congenital malformations. J Med Genet 6:334-341.
17. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LCP, Eussen BHJ, Hemel JOV, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. 2000. Molecular cytogenetic analysis ofeight inversion duplications ofhuman chromosome 13q that each contain a neocentromere. Am J Hum Genet 66:1794-1806.
18. Wertelecki W, Breg WR, Graham JM Jr, Linuma K, Puck SM, Sergovich FR. 1986. Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. Am J Med Genet 23:739-749.
19. Zuelzer WW, Beattie KM, Reisman LE. 1964. Generalized unbalanced mosaicism attributable to dispermy and probable fertilization of a polar body. Hum Genet 16:38-51.