Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative BDLS gene mutation?

American Journal of Medical Genetics

Volumn 118 A, Issue 4, 2003, Pages 358-361

  Zankl, Andreas ^a,c   Rampa, Antonio ^b   Schinzel, Albert ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b Practicing Pediatrician   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

CdLS; Cornelia de Lange syn drome; Hemihypertrophy; Hemihypotrophy

Indexed keywords

ARTICLE; BODY GROWTH; CASE REPORT; CHILD; CRANIOFACIAL MALFORMATION; DE LANGE SYNDROME; FEMALE; GENE DELETION; GENE MUTATION; HEMIHYPERTROPHY; HUMAN; LIMB MALFORMATION; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SKIN PIGMENTATION;

EID: 0041329869     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20069     Document Type: Article

References (17)

1. Allanson JE, Hennekam RCM, Ireland M. 1997. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 34:645-650.
2. Donnai D, Read AP, McKeown C, Andrews T. 1988. Hypomelanosis of Ito: A manifestion of mosaicism or chimerism. J Med Genet 25:809-818.
3. Happle R. 1985. Lyonisation and the lines of Blaschko. Hum Genet 70: 200-206.
4. Happle R. 1986a. Cutaneous manifestations of lethal genes. Hum Genet 72:280.
5. Happle R. 1986b. The McCune-Albright Syndrome: A lethal gene surviving by mosaicism. Clin Genet 29:321-324.
6. Happle R. 1993. Klippel-Trenaunay syndrome: Is it a paradominant trait? Brit J Derm 128:465.
7. Ireland M, English C, Cross I, Houlsby WT, Burn J. 1991. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J Med Genet 28:639-640.
8. Ireland M, Donnai D, Burn J. 1993. Brachmann-de Lange syndrome: Delineation of the clinical phenotype. Am J Med Genet 47:959-964.
9. Ireland M, English C, Cross I, Lindsay S, Strachan T. 1995. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet 32:837-838.
10. Jackson L, Kline AD, Barr MA, Koch S. 1993. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47:940-946.
11. Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. 2001. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet 101:120-129.
12. McLaren A, Gauld IK, Cowman PA. 1973. A comparison between mice chimeric and heterozygous for the x-linked gene tabby. Nature 241:180-183.
13. Monk D, Hitchins M, Russo S, Preece M, Stanier P, Moore GE. 2001. No evidence for mosaicism in Silver-Russell syndrome. J Med Genet 38: e11.
14. Robinson LK, Wolfsberg E, Jones KL. 1985. Brachmann-de Lange syndrome: Evidence for autosomal dominant inheritance. Am J Med Genet 22:109-115.
15. Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER. 1994. Mosaic uniparental disomy in Beckwith -Wiedemann syndrome. J Med Genet 31:749-753.
16. Smeets E, Fryns JP, Cohen MM. 1994. Regional Proteus syndrome and somatic mosaicism. Am J Med Genet 51:29-31.
17. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. 1991. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695.