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Chromosomal Abnormalities

  • Mark L. Goldstein
  • Stephen Morewitz
Chapter

Abstract

Numerous chromosomal and genetic disorders exist, and several volumes would be needed to delineate each of them. For the purposes of this chapter, the authors have chosen to focus largely on several chromosomal disorders, mainly the trisomies. Other common genetic disorders will be briefly referenced and sources will be provided for those interested in understanding these disorders in greater detail.

Keywords

Autism Spectrum Disorder Down Syndrome Turner Syndrome Angelman Syndrome Klinefelter Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Anderson, M. (1998). Mental retardation, general intelligence and modularity. Learn Indiv Differ, 10 (3), 159–178.CrossRefGoogle Scholar
  2. Angelman, S. (1950). The syndrome of obstruction of inferior vena cara in childhood. Br Med J, 2 (4682), 752–755.CrossRefPubMedGoogle Scholar
  3. Angelman Syndrome Foundation. (2005). Retrieved from http://www.angelman.org
  4. American College of Obstetricians and Gynecologists. (2001). Prenatal diagnosis of fetal chromosomal abnormalities. ACOG Prac Bull, 27, 12.Google Scholar
  5. American College of Obstetricians and Gynecologists. (2005). Your pregnancy and birth (4th ed.). Washington, DC: ACOG.Google Scholar
  6. Barnes, E., Roberts, J., Long, S.H. et al. (2009). Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. J Speech Lang Hear Res, 52 (4), 1048–1061.CrossRefPubMedGoogle Scholar
  7. Battaglia, A., Fillippi, T., Carey, J.C. (2008). Update on the clinical features and natural history of Wolf-Hirshchorn syndrome. Am J Med Genet C Semin Med Genet, 148, 246–251.Google Scholar
  8. Baty, B.J., Brent, L., Cary, J.C. et al. (1994a). Natural history of trisomy 18 and trisomy 13: growth, physical assessment, medical histories, survival and recurrence rate. Am J Med Genet, 49, 175–187.CrossRefPubMedGoogle Scholar
  9. Baty, B.J., Jorde, L.B., Blackburn, B.L. (1994b). Natural history of trisomy 18 and trisomy 13: psychomotor development. Am J Med Genet, 49 (2), 189–194.CrossRefPubMedGoogle Scholar
  10. Baylis, A.L., Munson, B., Moller, K.T. (2008). Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. Cleft Palate Craniofac J, 45 (2), 193–207.CrossRefPubMedGoogle Scholar
  11. Beers, M.H., Berkow, R. (2004). Congenital anomalies. In the Merck manual of diagnosis and therapy. Whitehouse, NJ: Merck Research Laboratories.Google Scholar
  12. Benitez, A. (2009). Genes, cognition, and language: some notes regarding velocardiofacial syndrome. Neurologia, Jan-Feb; 24 (1), 50–58.PubMedGoogle Scholar
  13. Benn, P.A., Egan, J.F. (2008). Expected performance of second trimester maternal serum testing followed by a ‘genetic sonogram’ in screening of fetal Down syndrome. Prenat Diagn, 28 (3), 230–235.CrossRefPubMedGoogle Scholar
  14. Bergemann, A.D., Cole, F., Hirschhorn, K. (2005). The etiology of Wolf-Hirschhorn syndrome. Trends Genet, 21 (3), 188–195.CrossRefPubMedGoogle Scholar
  15. Bertella, L., Mori, I., Grugni, G. et al. (2007). Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Intell Disabil Res, 51 (4), 302–311.CrossRefGoogle Scholar
  16. Best, R.G., Stallworth, J. (2002). Patau syndrome. Retrieved from http://www.e.medicine.
  17. Brender, J.D., Suarez, L., Langlois, P.H. (2008). Parental occupation, Hispanic ethnicity, and risk of selected congenital malformations in offspring. Ethn Dis, 18 (2), 218–224.PubMedGoogle Scholar
  18. Brouwer, O.F., Burntinx, I.M., Willems, P.J. et al. (1990). Angelman’s happy puppet syndrome. Tidjschr Kindergenesskd, 58 (3), 89–91.Google Scholar
  19. Butler, M.G., Thompson, T. (2000). Prader-Willi syndrome: clinical findings. The Endocrinologist, 10 (4), 3S–16S.CrossRefGoogle Scholar
  20. Carey, J.C. (2003). Chromosomal disorders in Rudolph and Rudolph (Eds.), Rudolph’s Pediatrics. New York: McGraw Hill, pp. 731–741.Google Scholar
  21. Cassidy, S.B., Schwartz, S. (1998). Prader-Willi and Angelman syndromes: disorders of genomic imprinting. Medicine, 77, 140–151.CrossRefPubMedGoogle Scholar
  22. Cassidy, S.B., Schwartz, S. (2009). Prader-Willi syndrome. In: R.A. Pagon, et al. (Eds.), GeneReviews (Internet). Seattle, WA: University of Washington.Google Scholar
  23. Cavanagh, J., Mathews, M. (2006). Maternal serum screening in Newfoundland and Labrador: do attitude and knowledge affect physicians’ practice? Can Fam Physician, 52 (10), 1268–1269.PubMedGoogle Scholar
  24. Cerrutti, M.P. (2006). Cri du chat syndrome. Orphanet J Rare Dis, 5, 1–33.Google Scholar
  25. Chang, C.Y., Lin, S.P., Lin, H.Y. et al. (2007). Cri-du-chat syndrome. Acta Paediatr Taiwan, 48 (6), 328–331.PubMedGoogle Scholar
  26. Chen, H. (2003). Wolf-Hirschhorn syndrome. Retrieved from http://www.e.medicine
  27. Cicchetti, D. (1991). Fractures in the crystal: developmental psychopathology and the emergence of self. Devel Rev, 11 (3), 271–287.CrossRefGoogle Scholar
  28. Clarke, D.J., Boer, H. (1998). Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes. Am J Ment Retard, 103 (3), 264–271.CrossRefPubMedGoogle Scholar
  29. Clayton-Smith, J., Laan, L. (2003). Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet, 40 (2), 87–95.CrossRefPubMedGoogle Scholar
  30. Cornish, K.M., Cross, G., Green, A. et al. (1999). A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet, 36 (7), 567–570.PubMedGoogle Scholar
  31. Curfs, L.M., Didden, R., Sikkema, S.P. et al. (1999). Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study. Genet Couns, 10 (4), 345–350.PubMedGoogle Scholar
  32. D’Antonio, L.L., Scherer, N.J., Miller, L.L. et al. (2001). Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J, 38 (5), 455–467.CrossRefPubMedGoogle Scholar
  33. Delatycki, M., Garder, R. (1997). Three case histories of trisomy 13 mosaicism and a review of the literature. Am J Med Genet, June, 403–407.Google Scholar
  34. De Smedt, B., Reynvoet, B., Swillen, A. et al. (2009). Basic number processing and difficulties in single-digit arithmetic: evidence from velo-cardio-facial syndrome. Cortex, 45 (2), 177–188.CrossRefPubMedGoogle Scholar
  35. De Smedt, B., Swillen, A., Ghesquiere, P. et al. (2003). Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. Genet Couns, 14 (1), 15–29.PubMedGoogle Scholar
  36. Descheemaeker, M.J., Vogels, A., Govers, V. et al. (2002). Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum. J Intellect Disabil Res, 46 (Pt 1), 41–50.CrossRefPubMedGoogle Scholar
  37. DeVore, G.R. (2003). Is genetic ultrasound cost-effective? Semin Perinatol, 27 (2), 173–182.CrossRefPubMedGoogle Scholar
  38. Drew, C.J. (1990). Down syndrome: best known but most misunderstood. PsycCritiques, 35 (8), 766–767.CrossRefGoogle Scholar
  39. Duarte, A.C., Menezes, A.I., Devens, E.S. et al. (2004). Patau syndrome with a long survival. A case report. Genet Mol Res, 3 (2), 288–292.PubMedGoogle Scholar
  40. Dudley, O., McManus, B., Vogels, A. et al. (2008). Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intell Disabil Res, 52 (5), 426–436.CrossRefGoogle Scholar
  41. Dykens, E.M., Clarke, D.J. (1997). Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. Dev Med Child Neurol, 39 (11), 752–756.PubMedGoogle Scholar
  42. Dykens, E., Schwenk, K., Maxwell, M. et al. (2007). The sentence completion and three wishes tasks: windows into the inner lives of people with intellectual disabilities. J Intell Disabil Res, 51 (8), 588–597.CrossRefGoogle Scholar
  43. Fang, J.S., Lee, K.F., Huang, C.T. et al. (2008). Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. Clin Genet, 73 (6), 585–590.CrossRefPubMedGoogle Scholar
  44. Ferrier, L.J., Bashir, A.S., Meryash, D.L. et al. (1991). Conversational skills of individuals with fragile-X syndrome: a comparison with autism and Down syndrome. Dev Med Child Neurol, 33 (9), 776–788.CrossRefPubMedGoogle Scholar
  45. Fisch, G.S., Battaglia, A., Parrini, B. et al. (2008). Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome. Am J Med Genet Semin Med Genet, 148C (4), 252–256.CrossRefGoogle Scholar
  46. Garcia-Ramirez, M., Csanyi, B., Martinez-Anton, J. et al. (2008). Genetic and clinical diagnosis of Angelman syndrome. An Pediatr (Barc), 69 (3), 232–238.CrossRefGoogle Scholar
  47. Ghosh, M., Shah, A.H., Dhir, K. et al. (2008). Behavior in children with Down syndrome. Indian J Pediatr, 75 (7), 685–689.CrossRefPubMedGoogle Scholar
  48. Giallo, R., Gavidia-Payne, S. (2006). Child, parent and family factors as predictors of adjustment of siblings of children with a disability. J Intellect Disabil Res, 50 (Pt 12), 937–948.CrossRefPubMedGoogle Scholar
  49. Gothelf, D., Feinstein, C., Thompson, T. et al. (2007). Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry, 164 (4), 663–669.CrossRefPubMedGoogle Scholar
  50. Gothelf, D., Frish, A., Munitz, H. et al. (1997). Velocardiofacial manifestations and microdeletions in schizophrenic patients. J Am Child Adoles Psychiatry, 36 (11), 1020–1027.Google Scholar
  51. Graham, A., Papalopulu, N., Lorimer, J. et al. (1988). Characterization of a murine homeo box gene, Hox 2-6, related to drosophila deformed gene. Genes Dev, 2 (11), 1424–1438CrossRefPubMedGoogle Scholar
  52. Hauser-Cram, P., Warfield, M.E., Shonkoff, J.P. et al. (2001). Children with disabilities: a longitudinal study of child development and parent well-being. Monogr Soc Res Child Dev, 66 (3), i–viii, 1–114.CrossRefGoogle Scholar
  53. Hay, B.N. (2007). Deletion 22Q11: spectrum of associated disorders. Semin Pediatr Neurol, 14 (3), 136–139.CrossRefPubMedGoogle Scholar
  54. Head, L.S., Abbeduto, L. (2007). Recognizing the role of parents in developmental outcomes: a systems approach to evaluating the child with developmental disabilities. Ment Retard Dev Disabil Res Rev, 13 (4), 293–301.CrossRefPubMedGoogle Scholar
  55. Heljic, S., Catibusic, F., Dozic, M. et al. (2004). Wolf-Hirschhorn syndrome. Med Arh, 58 (5), 318–320.PubMedGoogle Scholar
  56. Hercher, L., Bruenner, G. (2008). Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome. Am J Med Genet A, 146A (18), 2355–2360.CrossRefPubMedGoogle Scholar
  57. Hirschorn, K., Cooper, H.L. (1961). Chromosomal aberrations in human disease: a review of the status of cytogenics in medicine. Nature, 31, 442–470.Google Scholar
  58. Hirschhorn, K. (2008). A short history of the initial discovery of Wolf-Hirschhorn syndrome. Am J Med Genet C Semin Med Genet, 148C (4), 244–245.CrossRefPubMedGoogle Scholar
  59. Hodapp, R. (2008). Stress and coping by mothers of children with Prader-Willi, Williams and Down syndromes. Washington, DC: American Psychological Association.Google Scholar
  60. Hodapp, R.M., Wijma, C.A., Masion, L.L. (1997). Families of children with 5p-(cri du chat) syndrome: familial stress and sibling reactions. Dev Med Child Neurol, 39 (11), 757–761.PubMedGoogle Scholar
  61. Hoybye, C., Thoren, M., Bohm, B. (2005). Cognitive, emotional, physical, and social effects of growth hormone treatment in adults with Prader-Willi syndrome. J Intellect Disabil Res, 49 (Pt 4), 245–252.CrossRefPubMedGoogle Scholar
  62. Hu, Y.L. (2007). Serum screening of fetal chromosome abnormality during second pregnancy trimester: results of 26,803 pregnant women in Jiangsu Province. Zhonghua Yi Xue Za Zhi, 87 (35), 2476–2480.PubMedGoogle Scholar
  63. Hunter, H. (1969). A controlled study of the psychopathology and physical measurement of Klinefelter’s syndrome. Brit J Psychiatry, 115 (521), 443–448.CrossRefGoogle Scholar
  64. Jaruratanasirikul, S., Soponthammarak, S., Chanvitan, P. et al. (2004). Clinical abnormalities, intervention programs, an school attendance of Down syndrome children in southern Thailand. J Med Assoc Thai, 87 (10), 1199–1204.PubMedGoogle Scholar
  65. Kessler, S., Moos, R. (1973). Behavioral aspects of chromosomal disorders. Ann Rev Med, 24, 89–102.CrossRefPubMedGoogle Scholar
  66. King, G.A., Zwaigenbaum, L., King, S. et al. (2006). A qualitative investigation of changes in the belief systems of families with autism or Down syndrome. Child Care Health Dev, May; 32 (3), 353–369.CrossRefPubMedGoogle Scholar
  67. Landry, S.H., Garner, P.W., Pirie, D. et al. (1994). Effects of social context and mother’s requesting strategies on Down’s syndrome children’s social responsiveness. Develop Psychology, 30 (2), 293–302.CrossRefGoogle Scholar
  68. Mainardi, P.C. (2006). Cri du Chat syndrome. Orphanet J Rare Dis, 1, 33.CrossRefGoogle Scholar
  69. Marco, E.J., Skuse, D.H. (2006). Autism lessons from the X chromosome. Soc Cogn Affect Neurosci, 1 (3), 183–193.CrossRefPubMedGoogle Scholar
  70. Mazzocco, M., Ross, J.L. (2007). Neurogenetic developmental disorders: variations of manifestation in childhood. Cambridge: The MIT Press.Google Scholar
  71. Miron, P., Cote, Y.P., Lambert, J. (2008). Effect of maternal smoking on prenatal screening for Down syndrome and trisomy 18 in the first trimester of pregnancy. Prenat Diagn, 28 (3), 180–185.CrossRefPubMedGoogle Scholar
  72. Moncia, A., Livet, M.O., Malzac, P. et al. (1994). Angelman syndrome. Arch Pediatr, 1 (12), 1118–1126.Google Scholar
  73. Morava, E., Czako, M., Melegh, B. et al. (2000). Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. Clin Genet, 58 (5), 403–405.CrossRefPubMedGoogle Scholar
  74. Morava, E., Lacassie, Y., King, A. et al. (2002). Scoliosis in velo-cardio-facial syndrome. J Pediatr Orthop, 22 (6), 780–783.PubMedGoogle Scholar
  75. Moss, J., Oliver, C., Arron, K. et al. (2009). The prevalence and phenomenology of repetitive behavior in genetic syndromes. J Autism Dev Disord, 39 (4), 572–588.CrossRefPubMedGoogle Scholar
  76. Nadel, L. (1996). Learning, memory and neural function in Down’s syndrome. In J.A. Rondal, J. Perera, L. Nadel, et al. (Eds.) Down’s syndrome: psychological, psychobiological and socio-educational perspectives. Philadelphia: Whurr Publishers, 21–42.Google Scholar
  77. Naguib, K.K., Al-Awadi, S.A., Moussa, M.A. et al. (1999). Trisomy 18 in Kuwait. Int J Epidemol, 28 (4), 711–716.CrossRefGoogle Scholar
  78. Nanjiani, A., Hossain, A., Mahgoub, M.D. (2007). Patau syndrome. J Neuropsychiatry Clin Neurosci, 19, 201–202.CrossRefGoogle Scholar
  79. National Down Syndrome Society. (2006). Questions and answers about Down syndrome. Retrieved from http://www.ndss.org
  80. National Human Genome Research Institute. (2008). Retrieved from http://www.genome.gov
  81. National Institute of Child Health and Human Development. (2006). Retrieved from http://www.nichd.nih/gov/publications
  82. National Organization for Rare Disorders. (2003). Retrieved from http://www.rare diseases.org
  83. Orsmond, G.I., Seltzer, M.M. (2007). Siblings of individuals with autism or Down syndrome. Effects on adult lives. J Intellect Disabil Res, 51 (Pt 9), 682–696.CrossRefPubMedGoogle Scholar
  84. Oskarsdottir, S., Belfrage, M., Sandstedt, E. et al. (2005). Disabilities and cognition in children and adolescents with 22q11 deletion syndrome. Dev Med Child Neurol, 47 (3), 177–184.CrossRefPubMedGoogle Scholar
  85. Paduch, D.A., Fine, R.G., Bolyakov, A. et al. (2008). New concepts in Klinefelter syndrome. Curr Opin Urol, 18 (6), 621–627.CrossRefPubMedGoogle Scholar
  86. Papolos, D.F., Faedda, G.L., Veit, S. et al. (1996). Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry, 153 (12), 1541–1547.PubMedGoogle Scholar
  87. Park, A., Mathews, M. (2009). Women’s decisions about maternal serum screening testing: a qualitative study exploring what they learn and the role prenatal care providers play. Women Birth, 22 (2), 73–78.CrossRefPubMedGoogle Scholar
  88. Patau, K., Smith, D.W., Therman, E. et al. (1960). Multiple congenital anomaly caused by an extra autosome. Lancet, 1, 790.CrossRefPubMedGoogle Scholar
  89. Pelc, K., Cheron, G., Dan, B. (2008). Behavior and neupsychiatric manifestations in Angleman syndrome. Neuropsychiatr Dis Treat, 4 (3), 577–584.PubMedGoogle Scholar
  90. Phelan, M.C. (2008). Deletion 22q13.3 syndrome. Orphanet J Rare Dis, 3, 14.CrossRefPubMedGoogle Scholar
  91. Polani, P.E. (1969). Abnormal sex chromosomes and mental disorder. Nature, 223 (5207), 680–686.CrossRefPubMedGoogle Scholar
  92. Prader-Willi Association. (2008). Prader-Willi syndrome. Retrieved from http://www.pwsausa.org
  93. Price, J., Roberts, J., Vandergrift, N. et al. (2007). Language comprehension in boys with fragile X syndrome and boys with Down syndrome. J Intellect Disabil Res, 51 (Pt 4), 318–326.CrossRefPubMedGoogle Scholar
  94. Rahi, J.S., Manaras, I., Tuomainen, H. et al. (2004). Meeting the needs of parents around the time of diagnosis of disability among their children: evaluation of a novel program for information, support, and liaison by key workers. Pediatrics, 114 (4), e477–482.CrossRefGoogle Scholar
  95. Robb, S.A., Pohl, K.R., Baraitser, M. et al. (1989). The ‘happy puppet’ syndrome of Angelman: review of the clinical features. Arch Dis Child, 64 (1), 83–86.CrossRefPubMedGoogle Scholar
  96. Roser, P., Kawohl, W. (2008). Turner syndrome and schizophrenia: a further hint for the role of the X chromosome in the pathogenesis of schizophrenic disorder. World J Biol Psychiatry, 11, 1–4.Google Scholar
  97. Ross, J.L., Roeitgen, D.P., Stefanatos, G. et al. (2008). Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A, 146A (6), 708–719.CrossRefPubMedGoogle Scholar
  98. Rubin, K.R. (2008). Turner syndrome: transition from pediatrics to adulthood. Endocr Pract, 14 (6), 775–781.PubMedGoogle Scholar
  99. Sarimski, K. (2003). Early play behaviour in children with 5p- (Cri-du-Chat) syndrome. J Intellect Disabil Res, 47 (pt 2), 113–120.CrossRefPubMedGoogle Scholar
  100. Scherer, N.J., D’Antonio, L.L., Kalbfleisch, J.H. (1999). Early speech and language development in children with velocardiofacial syndrome. Am J Med Genet, 88 (6), 714–723.CrossRefPubMedGoogle Scholar
  101. Secretary of State (UK) for Health (2001). Valuing people – a new strategy for learning disability for the 21st century. The stationary office, Cm 5086. Retrieved March 1, 2010 from: http://www.archive.official-documents.co.uk/document/cm50/5086/5086.pdf
  102. Shprintzen, R.J. (2008). Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev, 14 (1), 3–10.CrossRefPubMedGoogle Scholar
  103. SOFT (Support Organization for Trisomy 18, 13 and Related Disorders). (2006). Retrieved from http://www.trisomy.org
  104. Stuart, S.W., King, C.H., Pai, G.S. (2007). Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication. MedGenMed, 9 (4), 60.PubMedGoogle Scholar
  105. Sugama, S., Namihira, T., Matsuoka, R. et al. (1999). Psychiatric inpatients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry, 67 (6), 803–806.CrossRefPubMedGoogle Scholar
  106. Summers, J.A., Allison, D.B., Lynch, P.S. et al. (1995). Behaviour problems in Angelman syndrome. J Intellect Disabil Res, 39 (Pt 2), 97–106.PubMedGoogle Scholar
  107. Tennakoon, J., Kandasamy, Y., Acock, G. et al. (2008). Edwards syndrome with double trisomy. Singapore Med J, 49 (7), e190–e191.PubMedGoogle Scholar
  108. Tsai, C.H., Van Dyke, D.L., Feldman, G.L. (1999). Child with velocardiofacial syndrome and del (4) (q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Genet, 82 (4), 336–369.CrossRefPubMedGoogle Scholar
  109. Turchetti, D., Rezzaboni, E., Zomer, H. et al. (2006). Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. Prenat Diagn, 26 (12), 1156–1159.CrossRefPubMedGoogle Scholar
  110. Walker, L.V., Miller, V.J., Dalton, V.K. (2008). The health-care experiences of families given the prenatal diagnosis of trisomy 18. J Perinatol, 28 (1), 12–19.CrossRefPubMedGoogle Scholar
  111. Walz, N.C., Baranek, G.T. (2006). Sensory processing patterns in persons with Angelman syndrome. Am J Occup Ther, 60 (4), 472–479.CrossRefPubMedGoogle Scholar
  112. Wang, Y.X., Li, R., Shao, J. et al. (2007). A study on the social adjustment and its affective factors in Down syndrome children. Zhonghua Yi Xue Za Zhi, 87 (20), 1402–1406.PubMedGoogle Scholar
  113. Whitman, B.Y., Myers, S., Carrel, A. et al. (2002). The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study. Pediatrics, 109 (2), E35.CrossRefPubMedGoogle Scholar
  114. Whittington, J., Holland, A., Webb, T. et al. (2004). Academic underachievement by people with Prader-Willi syndrome. J Intellect Disabil Res, 48 (Pt 2), 188–200.CrossRefPubMedGoogle Scholar
  115. Widdershoven, J.C., Stubenitsky, B.M., Breugem, C.C. et al. (2008). Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg, 134 (11), 1159–1164.CrossRefPubMedGoogle Scholar
  116. Wisniewski, K.E., Kida, E., Brown, W.T. (1996). Consequences of genetic abnormalities in Down’s syndrome on brain structure and function. In J.A. Rondal, J. Perera, L. Nadel, et al. (Eds.), Down’s syndrome: psychological, psychobiological and socio-educational perspectives. Philadelphia: Whurr Publishers, 3–19.Google Scholar
  117. Wright, I., Lewis, V., Collis, G.M. (2006). Imitation and representational development in young children with Down syndrome. Brit J Develop Psychology, 24 (2), 429–450.CrossRefGoogle Scholar
  118. Wustmann, T., Preuss, U.W. (2009). Turner syndrome and psychosis: a case report and brief review of the literature. Psychiatr Prax, July; 36 (5), 243–245.CrossRefGoogle Scholar
  119. Ysunza, A., Pamplona, M.C., Molina, F. et al. (2009). Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. Int J Pediatr Otorhinolaryngol, 73 (11), 1572–1575.CrossRefPubMedGoogle Scholar
  120. 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. Am J Med Genet C Semin Med Genet, 148C (4), 257–269.CrossRefPubMedGoogle Scholar

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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.ChicagoUSA
  2. 2.San FranciscoUSA

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