Abstract
This paper describes a 12-year-old Japanese boy with coarctation of the aorta, renal hypoplasia, Turner/Noonan surface anomalies, and a 46,XY karyotype. Although the patient might represent an exceptional case of Noonan syndrome, the combination of the somatic stigmata appears to be consistent with a mutation of the putative lymphogenic gene(s) for Turner somatic stigmata.
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Chitayat D, Kalousek DK, Bamforth JS (1989) Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 33: 352–356
Ferguson-Smith MA (1991) Genotype-phenotype correlations in individuals with disorders of sex determination and development including Turner's syndrome. Semin Dev Biol 2: 265–276
Fernández FG, Freire CP, Benito LP, Pérez AC, Carasa JCV, Villalobos JL (1983) Sindrome de Ulrich-Noonan asociado a coartación de aorta: presentación de un nuevo caso. Med Clin 81: 278–279
George CD, Patton MA, El Sawi M, Sharland M, Adam EJ (1993) Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Pediatr Radiol 23: 316–318
Goldberg SJ (1989) Doppler echocardiography. In: Adams FH, Emmanouilides GC, Riemenschneider TA (eds) Moss' heart disease in infants, children, and adolescents, 4th edn. Williams and Wilkins, Baltimore, pp 81–92
Grumbach MM, Conte FA (1992) Disorders of sexual differentiation. In: Wilson JD, Foster DW (eds) Williams textbook of endocrinology, 8th edn. Saunders, Philadelphia, pp 853–952
Han BK, Babcock DS (1985) Sonographic measurements and appearance of normal kidneys in children. AJR 145: 611–616
Ikeuchi T (1984) Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet 38: 56–61
Jones KL (1988) Smith's recognizable patterns of human malformation: genetic, embryonic and clinical aspects, 4th edn. Saunders, Philadelphia
Lanning P, Similä S, Suramo I, Paavilainen T (1978) Lymphatic abnormalities in Noonan's syndrome. Pediatr Radiol 7: 106–109
Lacro RV, Jones KL, Benirschke K (1988) Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygroma, hydrops fetalis, and female genitalia. Pediatrics 81: 445–451
Mendez HMM, Opitz JM (1985) Noonan syndrome: a review. Am J Med Genet 21: 493–506
Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T (1991) PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet 41: 112–114
Nora JJ (1989) Etiologic aspects of heart disease. In: Adams FH, Emmanouilides GC, Riemenschneider TA (eds) Moss' heart disease in infants, children, and adolescents, 4th edn. Williams and Wilkins, Baltimore, pp 15–23
Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95: 607–629
Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G (1993) Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet 30: 918–922
Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillvray B, Chapelle A de la, Brown LG (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51: 1091–1104
Scharer K, Gilli G (1984) Growth in children with chronic renal insufficiency. In: Fine RN, Gruskin AB (eds) End stage renal disease in children. Saunders, Philadelphia, pp 271–290
Scorer CG (1964) The descent of the testis. Arch Dis Child 39: 605–609
Vittay P, Bösze P, Gaál M, Lászl J (1980) Lymph vessel defects on patients with ovarian dysgenesis. Clin Genet 18: 387–391
Vollrath D, Foote S, Hiltn A, Brown LG, Beer-Romero P, Bogan JS, Page DC (1992) The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258: 52–59
Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJR, Hall JG (1987) Lymphoedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 27: 841–856
Zarabi M, Mieckowski GC, Mazer J (1983) Cystic hygroma associated with Noonan's syndrome. JCU 11: 398–400
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Hasegawa, T., Ogata, T., Hasegawa, Y. et al. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet 97, 564–567 (1996). https://doi.org/10.1007/BF02281861
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DOI: https://doi.org/10.1007/BF02281861