Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

American Journal of Medical Genetics

Volumn 129, Issue 2, 2004, Pages 180-183

  Takeno, S S ^a   Corbani, M ^a   Andrade, J A D ^a   Smith, M De A C ^a   Brunoni, D ^a   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

3:1 segregation; Deletion 4p; Duplication 4p; Translocation (4; 13); Wolf Hirschhorn syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME 4P; CHROMOSOME DELETION 4; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 4; FEMALE; HUMAN; MALE; MONOSOMY; PEDIGREE; PRIORITY JOURNAL; TRISOMY; WOLF HIRSCHHORN SYNDROME;

CANIS;

EID: 4344623939     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30224     Document Type: Article

References (21)

1. Barber JCK, Temple IK, Campbell PL, Cllinson MN, Campbell CM, Renshaw RM, Dennis NR. 1996. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am J Med Genet 62:84-90.
2. 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.
3. Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ. 2001. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet 60:421-430.
4. Chandley AC. 1996. Infertility. In: Emery AEH, Rimoin DL, editors. Emery and Rimoin's principles and practice of medical genetics. New York: Churchill Livingstone. pp 667-675.
5. Dallapiccola B, Mastroiacovo PP, Montali E, Sommer A. 1977. Trisomy 4p: Five new observations and overview. Clin Genet 12:344-356.
6. Daniel A. 1979. Structural differences in reciprocal translocations. Hum Genet 51:171-182.
7. Davis JR, Roger BB, Hagaman RM, Thies CA, Veomett IC. 1985. Balanced reciprocal translocations: Risk factors for aneuploid segregant viability. Clin Genet 27:1-19.
8. Jalbert P, Sele B, Jalbert H. 1980. Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. Hum Genet 55:209-222.
9. Kleczowska A, Fryns JP, Van Den Berghe H. 1992. Trisomy of the short arm of chromosome 4: The changing phenotype with age. Ann Génét 35:217-223.
10. Kosztolanyi G, Mehes K, Hook EB. 1991. Inherited ring chromosome: An analysis of published case. Hum Genet 87:320-424.
11. Miller OJ, Therman E. 2001. Human chromosomes. New York: Springer. p 501.
12. Neavel CB, Soukup S. 1994. Deletion of (11) (q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 53:321-324.
13. Opitz JM. 1995. Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome. Am J Med Genet 55:459-461.
14. Rothenmund H, Chudley AE, Dawson AJ. 1997. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update. Am J Med Genet 72:339-342.
15. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. New York: Walter de Gruyter. p 966.
16. Shannon NL, Maltby EL, Rigby AS, Quarrell OWJ. 2001. An epidemiological study of Wolf-Hirschhorn syndrome: Life expectancy and cause of mortality. J Med Genet 38:674-679.
17. Wieacker P, Jakubiczka S. 1997. Genetic causes of male infertility. Andrologia 29:63-69.
18. Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. 2000. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of the 13 patients with a de novo deletion. Eur J Hum Genet 8:519-526.
19. Zimmermann-Bär U, Stallmach T, Riegel M, Wiedermann U, Fauchère JC, Binkert F, Kotzot D. 2000. Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation. Prenat Diagn 20:847-850.
20. Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalá A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94:254-261.
21. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72:590-597.