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Wolf–Hirschhorn Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Wolf–Hirschhorn syndrome (WHS) is a chromosome 4p deletion syndrome, first described by Cooper and Hirschhorn in 1961, followed by the report of Wolf et al. in 1965. The incidence is estimated to be approximately 1 in 50,000 births.

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References

  • Altherr, M. R., Wright, T. J., Denison, K., et al. (1997). Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. American Journal of Medical Genetics, 71, 47–53.

    Article  CAS  PubMed  Google Scholar 

  • Anntonius, T., Draaisma, J., Levtchenko, E., et al. (2008). Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age). European Journal of Pediatrics, 167, 807–810.

    Article  Google Scholar 

  • Battaglia, A., & Carey, J. C. (1998). Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. American Journal of Medical Genetics, 75, 541.

    Article  CAS  PubMed  Google Scholar 

  • Battaglia, A., & Carey, J. C. (1999). Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 89, 111–115.

    Article  CAS  Google Scholar 

  • Battaglia, A., Carey, J. C., Cederholm, P., et al. (1999). Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics, 103, 830–836.

    Article  CAS  PubMed  Google Scholar 

  • Battaglia, A., Carey, J. C., & Wright, T. J. (2001). Wolf-Hirschhorn (4p-) syndrome. Advances in Pediatrics, 48, 75–113.

    CAS  PubMed  Google Scholar 

  • Battaglia, A., Filippi, T., & Carey, J. C. (2008). Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 148C, 246–251.

    Article  CAS  PubMed  Google Scholar 

  • Battaglia, A., Carey, J. C., & South, S. T. (2015). Wolf–Hirschhorn syndrome: A review and update. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 9999, 1–8.

    Google Scholar 

  • Chen, H. (2015). Wolf-Hirschhorn syndrome. eMedicine from WebMD. Updated 14 Feb 2015. Available at: http://emedicine.medscape.com/article/950480-overview

  • Clemens, M., Martsolf, J. T., Rogers, J. G., et al. (1996). Pitt-Rogers-Danks syndrome: The result of a 4p microdeletion. American Journal of Medical Genetics, 66, 95–100.

    Article  CAS  PubMed  Google Scholar 

  • Dallapiccola, B., Mandich, P., Bellone, E., et al. (1993). Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. American Journal of Medical Genetics, 47, 921–924.

    Article  CAS  PubMed  Google Scholar 

  • Dietze, I., Fritz, B., Huhle, D., et al. (2004). Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature. Fetal Diagnosis and Therapy, 19, 251–260.

    Article  PubMed  Google Scholar 

  • Dufke, A., Seidel, J., Schoning, M., et al. (2000). Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. Cytogenetics and Cell Genetics, 91, 81–84.

    Article  CAS  PubMed  Google Scholar 

  • Fang, Y. Y., Bain, S., Haan, E. A., et al. (1997). High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. American Journal of Medical Genetics, 71, 453–457.

    Article  CAS  PubMed  Google Scholar 

  • Fryns, J., Pediatr, S. E., Devriendt, K., et al. (1998). Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. Annales de Génétiqué, 41, 73–76.

    CAS  PubMed  Google Scholar 

  • Hanley-Lopez, J., Estabrooks, L. L., & Stiehm, R. (1998). Antibody deficiency in Wolf-Hirschhorn syndrome. Journal of Pediatrics, 133, 141–143.

    Article  CAS  PubMed  Google Scholar 

  • Ikonomou, T., Antsaklis, P., Dasklakis, G., et al. (2013). Prenatal diagnosis of Wolf–Hirschhorn syndrome: Ultrasonography and genetics. Journal of Maternal-Fetal Medicine, 26, 941–942.

    Article  Google Scholar 

  • Johnson, V. P., Mulder, R. D., & Hosen, R. (1976). The Wolf-Hirschhorn (4p-) syndrome. Clinical Genetics, 10, 104–112.

    Article  CAS  PubMed  Google Scholar 

  • Lesperance, M. M., Grundfast, K. M., & Rosenbaum, K. N. (1998). Otologic manifestations of Wolf-Hirschhorn syndrome. Archives of Otolaryngology – Head & Neck Surgery, 124, 193–196.

    Article  CAS  Google Scholar 

  • Lurie, I. W., Lazjuk, G. I., Ussova, Y. I., et al. (1980). The Wolf-Hirschhorn syndrome. I. Genetics. Clinical Genetics, 17, 375–384.

    Article  CAS  PubMed  Google Scholar 

  • Ogle, R., Sillence, D. O., Merrick, A., et al. (1996). The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome. American Journal of Medical Genetics, 65, 124–127.

    Article  CAS  PubMed  Google Scholar 

  • Pitt, D. B., Rogers, J. G., & Danks, D. M. (1984). Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome? American Journal of Medical Genetics, 19, 307–313.

    Article  CAS  PubMed  Google Scholar 

  • Rauch, A., Schellmoser, S., Kraus, C., et al. (2001). First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. American Journal of Medical Genetics, 99, 338–342.

    Article  CAS  PubMed  Google Scholar 

  • Roulston, D., Altherr, M., Wasmuth, J. J., et al. (1991). Confirmation of a suspected deletion 4p16 by fluorescent in situ hybridization (FISH) with a cosmid probe. American Journal of Human Genetics, 49, 274.

    Google Scholar 

  • Schlickum, S., Moghekar, A., Simpson, J. C., et al. (2004). LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Genomics, 83, 254–261.

    Article  CAS  PubMed  Google Scholar 

  • Shannon, N. L., Maltby, F. L., Rigby, A. S., et al. (2001). An epidemiological study of Wolf-Hirschhorn syndrome: Life expectancy and cause of mortality. Journal of Medical Genetics, 38, 674–679.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sharathkumar, A., Kirby, M., Freedman, M., et al. (2003). Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. American Journal of Medical Genetics, 119A, 194–199.

    Article  PubMed  Google Scholar 

  • Shimizu, K., Wakui, K., Kosho, T., et al. (2014). Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome. American Journal of Medical Genetics Part A, 164A, 597–609.

    Article  PubMed  Google Scholar 

  • South, S. T., Whitby, H., Battaglia, A., et al. (2008). Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. European Journal of Human Genetics, 16, 45–52.

    Article  CAS  PubMed  Google Scholar 

  • Tachdjian, G., Fondacci, C., Tapia, S., et al. (1992). The Wolf-Hirschhorn syndrome in fetuses. Clinical Genetics, 42, 281–287.

    Article  CAS  PubMed  Google Scholar 

  • Wieczorek, D., Krause, M., Majewski, F., et al. (2000). Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome analysis of 13 patients with a de novo deletion. European Journal of Human Genetics, 8, 519–526.

    Article  CAS  PubMed  Google Scholar 

  • Wilson, M. G., Towner, J. W., Coffin, G. S., et al. (1981). Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. Human Genetics, 59, 297–307.

    Article  CAS  PubMed  Google Scholar 

  • Wolf, U., Reinwein, H., Porsch, R., et al. (1965). Deficiency on the short arms of a chromosome No. 4. Humangenetik, 1, 397–413.

    Article  CAS  PubMed  Google Scholar 

  • Wright, T. J., Clemens, M., Quarrell, O., et al. (1998). Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. American Journal of Medical Genetics, 75, 345–350.

    Article  CAS  PubMed  Google Scholar 

  • Wright, T. J., Ricke, D. O., Denison, K., et al. (1997). A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Human Molecular Genetics, 6, 317–324.

    Article  CAS  PubMed  Google Scholar 

  • Zollino, M., Di Stefano, C., Zampino, G., et al. (2000). Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. American Journal of Medical Genetics, 94, 254–261.

    Article  CAS  PubMed  Google Scholar 

  • Zollino, M., Lecce, R., Fischetto, R., et al. (2003). Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. American Journal of Human Genetics, 72, 590–597.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zollino, M., Murdolo, M., Marangi, G., et al. (2008). On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 148C, 257–269.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Wolf–Hirschhorn Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_247

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_247

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