Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf-Hirschhorn Syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 2, 2008, Pages 219-224

  Pardo, Sherly ^a   Blitman, Netta ^b   Han, Bokyung ^b   Cohen, Ninette ^a   Edelmann, Lisa ^a   Hirschhorn, Kurt ^a,c  

^a MOUNT SINAI MEDICAL CENTER   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Duplication 3q syndrome; Hamartoma; Hemangioma; Wolf Hirschhorn syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME 4P; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DE LANGE SYNDROME; DISEASE ASSOCIATION; HAMARTOMA; HEMANGIOMA; HUMAN; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 4; HEMANGIOMA; HUMANS; INFANT; MALE; TRANSLOCATION, GENETIC; TRISOMY; WOLF-HIRSCHHORN SYNDROME;

EID: 37849044883     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32033     Document Type: Article

References (23)

1. Angle B, Yen F, Hersh JH, Gowans G. 2003. Patient with terminal duplication 3q and terminal deletion 5q: Comparison with the 3q duplication syndrome and distal 5q syndrome. Am J Med Genet Part A 116A:376-380.
2. Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. 1995. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 55:33-37.
3. Battaglia A. 2005. Wolf-Hirschhorn syndrome. In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes, 2e. New York: Wiley-Liss. p 667-676.
4. Battaglia A, Carey JC. 2000. Update on the clinical features and natural history of Wolf-Hirschhorn syndrome(WHS): Experience with 48 cases. Am J Hum Genet 67:127.
5. Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. 1999. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics 103:830-836.
6. Battaglia A, Carey JC, Wright TJ. 2006. Wolf-Hirschhorn syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: Copyright: University of Washington Available at http://www.geneclinics.org.
7. Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E. Société Française de Neurochirurgie. 2005. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 76:42-51.
8. Cooper H, Hirschhorn K. 1961. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl 4:14.
9. Domfeh AB, Fichera M, Hunt JL. 2006. Allelic loss of 3 different tumor suppressor gene loci in bening and malignant endothelial tumors of the head and neck. Arch Pathol Lab Med 130:1184-1187.
10. Faas BHW, de Vries BBA, van Es-van Gaal J, Merkx G, Draaisma JMT, Smeets DFCM. 2002. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet 62:315-320.
11. Lim AST, Lim TH, Chia P, Raman S, Pickering DL, Zaleski DH, Sanger WG, Tien SI. 2004. A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3) (q33.1;q26.2q27) delineated by FISH. Prenat Diagn 24:931-932.
12. Ounap K, Ilus T, Bartsch O. 2005. A girl with inverted triplication of chromosome 3q25.3-q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet Part A 134A:434-438.
13. Rodahl E, Lybaek H, Arnes J, Ness GO. 2005. Chromosomal imbalances in some benign orbital tumours. Acta Ophthalmol Scand 83:385-391.
14. Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L. 2007. Molecular and genomic characterization of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region. J Med Genet 43:e39.
15. Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. 2004. 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr 145:840-842.
16. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen O, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q. 2004. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 427:640-645.
17. Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin J, Dodinval P. 1991. Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat Diagn 11:129-132.
18. Whelan AJ, Watson MS, Porter FD, Steiner RD. 1995. Klippel-Trenaunay- Weber syndrome associated with a 5;11 balanced translocation. Am J Med Genet 59:492-494.
19. Wilson GN, Hieber VC, Schmickel RD. 1978. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 93:783-788.
20. Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG. 2003. Omphalocele in trisomy 3q: Further delineation of phenotype. Clin Genet 64:404-413.
21. Zafra de la Rosa G, Venegas-Vega CA, Monroy N, Contreras-Bucio G, Friedrich U, Houman M, Saad A, Fernandez P, Kofman-Alfaro S, Cervantes A. 2005. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype. Am J Med Genet Part A 136A:259-264.
22. Zollino M, DiStefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappala A, Battaglia A, Di Rocco M, Palka G, Pallota R, Altherr MR, Neri G. 2000. Genotype-Phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94:254-261.
23. Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. 2004. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 12:797-804.