Down syndrome (trisomy 21)

  • 1  Down JLH. Observations on an ethnic classification of idiots. Clin Lect Rep London Hosp 1866;3:259–62.
  • 2  Smith DW, Wilson AA. The Child with Down's Syndrome. Philadelphia: Saunders, 1973.
  • 3  Salmon MA. Developmental Defects and Syndromes. Aylesbury: HM & M, 1978:346–56.
  • 4  Lejeune J, Gautier M, Turpin R. Les chromosomes somatiques des enfants mongoliens. C R Acad Sci (Paris) 1959;248:1721–2.
  • 5  Fabia J. Illegitimacy and Down's syndrome. Nature 1969;221:1157–8. Cross Ref link Pubmed link
  • 6  Wilson MG, Towner JW, Forsman I. Decreasing mosaicism in Down's syndrome. Clin Genet 1980;17:335–40. Cross Ref link Pubmed link
  • 7  Carter DM, Jegosothy BV. Alopecia areata and Down's syndrome. Arch Dermatol 1976;112:1397–9. Cross Ref link Pubmed link
  • 8  Kersting DW, Rapaport IF. A clinico‐pathologic study of the skin in mongolism. Arch Dermatol 1958;77:319–23. Cross Ref link
  • 9  Rex AP, Preus M. A diagnostic index for Down's syndrome. J Pediatr 1982;100:903–6. Cross Ref link Pubmed link
  • 10  Rapaport I. Oligophrenie mongolienne et ectodermoses congenitales. Ann Dermatol Syphiligr 1960;87:263–78.
  • 11  Brugge KL, Grove GL, Clopton P, et al. Evidence for accelerated skin wrinkling among developmentally delayed individuals with Down's syndrome. Mech Ageing Dev 1993;70:213–25. Cross Ref link Pubmed link
  • 12  Kavanagh GM, Leeming JP, Marshman GM, et al. Folliculitis in Down's syndrome. Br J Dermatol 1993;129:696–9. Cross Ref link Pubmed link
  • 13  Du Vivier A, Munro DD. Alopecia areata, autoimmunity and Down's syndrome. BMJ 1975;i:191–2. Cross Ref link
  • 14  Butterworth T, Leoni EP, Beerman H, et al. Cheilitis of mongolism. J Invest Dermatol 1960;35:347–52. Cross Ref link Pubmed link
  • 15  Rasmussen JE. Disseminated elastosis perforans serpiginosa in four mongoloids. Recognition of residual changes. Br J Dermatol 1972;86:9–13. Cross Ref link Pubmed link
  • 16  Langeveld‐Wildschut EG, Toonstra J, van‐Vloten WA, et al. Familial elastosis perforans serpiginosa. Arch Dermatol 1993;129:205–7. Cross Ref link Pubmed link
  • 17  Rhodes LE, Verbov JL. Widespread syringomata in Down's syndrome. Clin Exp Dermatol 1993;18:333–4. Cross Ref link Pubmed link
  • 18  Schepis C, Siragusa M, Palazzo R, et al. Palpebral syringomas and Down's syndrome. Dermatology 1994;189:248–50. Cross Ref link Pubmed link
  • 19  Velthuis PJ, Nijenhuis M. Treatment of onychomycosis with terbinafine in patients with Down's syndrome. Br J Dermatol 1995;133:144–6. Cross Ref link Pubmed link
  • 20  Rotchford JP, Hyman AB. Extreme hyperkeratotic psoriasis in a mongoloid. Arch Dermatol 1961;83:973–6. Cross Ref link Pubmed link
  • 21  Nakano J, Muto M, Arikawa K, et al. Acral lentiginous melanoma associated with Down's syndrome. J Dermatol 1993;20:59–60. Cross Ref link Pubmed link
  • 22  Bilgili SG, Akdeniz N, Karadag AS, Akbayram S, Calka O, Ozkol HU. Mucocutaneous disorders in children with Down syndrome: case‐controlled study. Genet Couns 2011;22(4):385–92. Pubmed link
  • 23  Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet 1996;50(5):317–20. Pubmed link

Trisomy 18 (Edwards syndrome)

  • 24  Butler LJ, Snodgrass GJAI, Sinclair NE, et al. E (16–18) trisomy syndrome: analysis of 13 cases. Arch Dis Child 1965;40:600–11. Cross Ref link Pubmed link
  • 25  Edwards JH, Harnden DG, Cameron AH, et al. A new trisomic syndrome. Lancet 1960;i:787–9. Cross Ref link
  • 26  Hodes ME, Cole J, Palmer CG, et al. Clinical experience with trisomies 18 and 13. J Med Genet 1978;15:48–60. Cross Ref link Pubmed link
  • 27  Chitayat D, Friedman JM, Johnston MM. Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. Am J Med Genet 1990;35:422–4. Cross Ref link Pubmed link
  • 28  Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 1994;103(Suppl.):141–3. Cross Ref link

Trisomy 13

  • 29  Patau K, Smith DW, Therman E, et al. Multiple congenital anomaly caused by an extra autosome. Lancet 1960;i:790–2. Cross Ref link
  • 30  Lubs HA Jr, Koenig EU, Brandt IK. Trisomy 13–15: a clinical syndrome. Lancet 1961;ii:1001–2. Cross Ref link
  • 31  Hodes ME, Cole J, Palmer CG, et al. Clinical experience with trisomies 18 and 13. J Med Genet 1978;15:48–60. Cross Ref link Pubmed link
  • 32  Strani GF, Tomidei M, Cagna‐Vallino G, et al. Patau's syndrome. Description of a clinical case with special reference to its dermatologic aspects. G Ital Dermatol Venereol 1986;121:25–8. Pubmed link
  • 33  González‐Del Angel A, Estandia‐Ortega B, Gaviño‐Vergara A, Sáez‐de‐Ocariz M, Velasco‐Hernández Mde L, Salas‐Labadía C. A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival. Pediatr Dermatol 2014;31(5):580–3. Cross Ref link Pubmed link

Other autosomal abnormality syndromes

  • 34  Clarke Fraser F. Gross chromosomal aberrations. In: Avery ME Taeusch HW, eds. Diseases of the Newborn, 5th edn. Philadelphia: Saunders, 1984.
  • 35  Borgaonkar DS. Chromosomal Variation in Man: a Catalogue of Chromosomal Variants and Anomalies, 4th edn. New York: Liss, 1984.
  • 36  Wolf U, Reinwein H. Clinical and cytogenetic differential diagnosis of the anomalies of the short arms of the B chromosomes. Z Kinderheilk 1967;98:235–45. Cross Ref link Pubmed link
  • 37  Laurent C, Robert JM. Etude genetique et clinique d'une famille de sept enfants dans laquelle trois sujets sont atteints de la ‘maladie du cri du chat’. Ann Genet 1966;9:113–22. Pubmed link
  • 38  Smith DW. Compendium on shortness of stature. J Pediatr 1967;70:463–519. Cross Ref link Pubmed link
  • 39  Wilkins LE, Brown JA, Nance WE, et al. Clinical heterogeneity in 80 home‐reared children with cri du chat syndrome. J Pediatr 1983;102:528–33. Cross Ref link Pubmed link
  • 40  Insley J. Syndrome associated with a deficiency of part of the long arm of chromosome 18. Arch Dis Child 1967;42:140–6. Cross Ref link Pubmed link

Turner syndrome

  • 41  Turner HH. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 1938;23:566–74. Cross Ref link
  • 42  Lindsten J. Turner's Syndrome. Uppsala: Almquist, 1963.
  • 43  Maclean N, Harnden DG, Court Brown WM. Abnormalities of sex chromosome constitution in newborn babies. Lancet 1961;ii:406–8. Cross Ref link
  • 44  Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet 2014;133:417–24. Cross Ref link Pubmed link
  • 45  Warburton D, Kline J, Stein Z. Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet 1980;i:167–9. Cross Ref link
  • 46  Gravholt CH, Juul S, Naeraa RW, et al. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996;312:16–21. Cross Ref link Pubmed link
  • 47  Bowen P. Chromosomal abnormalities. Clin Orthop 1964;3:40–58.
  • 48  Grumbach MM, Conte FA. Disorders of sex differentiation. In: Williams RH, ed. Textbook of Endocrinology. Philadelphia: Saunders, 1981.
  • 49  Ashby DIB. Human Intersex. Edinburgh: Livingstone, 1962.
  • 50  Alvin A, Dieh J, Lindsten J, et al. Lymph vessel hypoplasia and chromosome aberrations in six patients with Turner's syndrome. Acta Derm Venereol (Stockh) 1967;47:25–33.
  • 51  Conte FA, Grumbach MM, Kaplan SL, et al. Correlation of luteinizing hormone‐releasing‐factor‐induced luteinizing hormone and follicle‐stimulating hormone release from infancy to 19 years with the changing pattern of gonadotrophin secretion in agonadal patients: relation to the restraint of puberty. J Clin Endocrinol Metab 1980;50:163–8. Cross Ref link Pubmed link
  • 52  Rossi E, Caflisch A. Le syndrome du pterygium Status Bonnevie‐Ullrich, dystrophia brevicolli congenita, syndrome de Turner et arthromyodysplasia congenita. Helv Paediatr Acta 1951;6:119–48. Pubmed link
  • 53  Grumbach MM, Van Wyk JJ, Wilkins L. Chromosomal sex in gonadal dysgenesis (ovarian agenesis): relationship to male pseudohermaphrodism and theories of human sex differentiation. J Clin Endocrinol Metab 1955;15:1161–93. Cross Ref link Pubmed link
  • 54  Andersson M, Bjersing L, Rafstedt S. Early diagnosis of gonadal dysgenesia (Turner's syndrome). Acta Paediatr (Stockh) 1958;47:132–41. Cross Ref link
  • 55  Chacko E, Graber E, Regelmann MO, Wallach E, Costin G, Rapaport R. Update on Turner and Noonan syndromes. Endocrinol Metab Clin North Am 2012;41:713–34. Cross Ref link Pubmed link
  • 56  FitzSimmons J, Fantel A, Shepard TH. Growth parameters in mid‐trimester fetal Turner syndrome. Early Hum Dev 1994;38:121–9. Cross Ref link Pubmed link
  • 57  Becker B, Jospe N, Goldsmith LA. Melanocytic nevi in Turner syndrome. Pediatr Dermatol 1994;11:120–4. Cross Ref link Pubmed link
  • 58  Knickmeyer RC. Turner syndrome: advances in understanding altered cognition, brain structure and function. Curr Opin Neurol 2012;25:144–9. Cross Ref link Pubmed link
  • 59  Lowenstein EJ, Kim KH, Glick SA. Turner's syndrome in dermatology. J Am Acad Dermatol 2004;50:767–76. Cross Ref link Pubmed link
  • 60  De La Chapelle A. Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocrinol Suppl 1962;65:1–122.
  • 61  Lleo A, Moroni L, Caliari L, Invernizzi P. Autoimmunity and Turner's syndrome. Autoimmun Rev 2012;11:A538–43. Cross Ref link Pubmed link
  • 62  Reindollar RH. Turner syndrome: contemporary thoughts and reproductive issues. Semin Reprod Med 2011;29:342–52. Cross Ref link Pubmed link
  • 63  Gordon GE, Overstreet EW, Traut HF, et al. A syndrome of gonadal dysgenesis: a variety of ovarian agenesis with androgenic manifestations. J Clin Endocrinol Metab 1955;15:1–12. Cross Ref link Pubmed link
  • 64  Bourguignon JP, Pierard GE, Ernould C, et al. Effects of human growth hormone therapy on melanocytic naevi. Lancet 1993;341:1505–6. Cross Ref link Pubmed link
  • 65  Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 2012;97:E994–1003. Cross Ref link Pubmed link

Klinefelter syndrome

  • 66  Klinefelter HF, Reifenstein EC Jr, Albright F. Syndrome characterized by gynaecomastia, aspermatogenesis with A‐Leydigism and increased excretion of follicle‐stimulating hormone. J Clin Endocrinol 1942;2:615–27. Cross Ref link
  • 67  Bandmann H‐J, Breit R. Klinefelter's Syndrome. Berlin: Springer, 1984. Cross Ref link
  • 68  Thompson MW. Genetics in Medicine, 3rd edn. Philadelphia: Saunders, 1980:174–6.
  • 69  Stewart JSS, Mack WS, Govan ADT, et al. Klinefelter's syndrome: clinical and hormonal aspects. QJM 1959;28:561–71. Pubmed link
  • 70  Becker KL, Hoffman DL, Albert A, et al. Klinefelter's syndrome. Clinical and laboratory findings in 50 patients. Arch Intern Med 1966;118:314–21. Cross Ref link Pubmed link
  • 71  Gerald PS. Current concepts in genetics. Sex chromosome disorders. N Engl J Med 1976;294:706–8. Cross Ref link Pubmed link
  • 72  Horowitz M, Nordin BEC, Aaron J, et al. Osteoporosis and Klinefelter's syndrome. In: Bandmann H‐J, Breit R, eds. Klinefelter's Syndrome. Berlin: Springer, 1984:51–61. Cross Ref link
  • 73  Rossiwall B. Taurodontism in Klinefelter's syndrome. In: Bandmann H‐J, Breit R, eds. Klinefelter's Syndrome. Berlin: Springer, 1984:80–4. Cross Ref link
  • 74  Saldana‐Garcia P. Dermatoglyphics of Klinefelter's syndrome. In: Bandmann H‐J, Breit R, eds. Klinefelter's Syndrome. Berlin: Springer, 1984:85–100. Cross Ref link
  • 75  Stern R, Fishman J, Brusman H, et al. Systemic lupus erythematosus associated with Klinefelter's syndrome. Arthritis Rheum 1977;20:18–22. Cross Ref link Pubmed link
  • 76  Alarcon‐Segovia D, Sauza J. SLE and Klinefelter's syndrome. In: Bandmann H‐J, Breit R, eds. Klinefelter's Syndrome. Berlin: Springer, 1984:109–14. Cross Ref link
  • 77  Olsen NJ, Kovacs WJ. Case report: testosterone treatment of systemic lupus erythematosus in a patient with Klinefelter's syndrome. Am J Med Sci 1995;310:158–60. Cross Ref link Pubmed link
  • 78  Dillon S, Aggarwal R, Harding JW, et al. Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus. Acta Paediatr 2011;100:819–23. Cross Ref link Pubmed link
  • 79  Kunze J, Frenzel UH, Huttig E, et al. Klinefelter's syndrome and incontinentia pigmenti. Hum Genet 1977;35:237–40. Cross Ref link Pubmed link
  • 80  Kenwrick S, Woffendin H, Jakins T, et al. International IP Consortium. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001;69:1210–17. Cross Ref link Pubmed link
  • 81  Alkindi S, Battin M, Aftimos S, Purvis D. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. Pediatr Dermatol 2013;30:476–9. Cross Ref link Pubmed link
  • 82  Howell R. Hypostatic ulceration and Klinefelter's syndrome. BMJ 1978;ii:95–6. Cross Ref link
  • 83  Campbell WA, Price WH. Venous thromboembolic diseases in Klinefelter's syndrome. Clin Genet 1981;19:275–80. Cross Ref link Pubmed link
  • 84  Gattringer C, Scheurecker C, Höpfl R, Müller H. Association between venous leg ulcers and sex chromosome anomalies in men. Acta Derm Venereol 2010;90:612–15. Cross Ref link Pubmed link
  • 85  Veraart JC, Hamulyak K, Neumann HA, et al. Increased plasma activity of plasminogen activator inhibitor 1 (PAI‐1) in two patients with Klinefelter's syndrome complicated by leg ulcers. Br J Dermatol 1994;130:641–4. Cross Ref link Pubmed link
  • 86  Howell R, Burton JL. Decreased fertility in men with venous stasis of the legs. Lancet 1982;ii:630–1. Cross Ref link
  • 87  Rogol AD, Tartaglia N. Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47,XXY). Pediatr Endocrinol Rev 2010;8(Suppl.)1:145–50. Pubmed link

Other abnormalities of the sex chromosomes

  • 88  Peterson WC, Gorlin RJ, Paegler F, et al. Cutaneous aspects of the XXYY genotype. A variant of Klinefelter's syndrome. Arch Dermatol 1966;94:695–8. Cross Ref link Pubmed link
  • 89  Voorhees JJ, Hayes E, Wilkins J, et al. The XYY chromosomal complement and nodulocystic acne. Ann Intern Med 1970;73:271–6. Cross Ref link Pubmed link
  • 90  Alam MT, Deschamps R, Gaba E, et al. The XYY syndrome in an adolescent male exhibiting prominent behavioural problems. Clin Genet 1972;3:162–8. Cross Ref link Pubmed link
  • 91  Christiansen P, Nielsen J. Urinary follicle stimulating hormone and luteinizing hormone in six males with the XYY syndrome. Acta Endocrinol 1973;74:625–30. Pubmed link
  • 92  Zaleski WA, Houston CS, Pozsonyi J. The XXXXY chromosome anomaly: report of three new cases and review of 30 cases from the literature. Can Med Assoc J 1966;194:1143–54.
  • 93  Yu S, Kremer E, Pritchard M, et al. The fragile X genotype is characterized by an unstable region of DNA. Science 1991;252:1179–81. Cross Ref link Pubmed link
  • 94  Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550bp DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097–102. Cross Ref link Pubmed link
  • 95  Sutherland GR, Haan EA, Kremer E, et al. Hereditary unstable DNA: a new explanation for some old genetic questions? Lancet 1991;338:289–92. Cross Ref link Pubmed link

Chromosomal mosaicism

  • 96  Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977;29(1):94–7. Pubmed link
  • 97  Cheung SW, Shaw CA, Scott DA, et al. Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007;143A(15):1679–86. Cross Ref link Pubmed link