Abstract
In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Dewhurst J (1978) Fertility in 47,XXX and 45,X patients. J Med Genet 15:132–135
Fraccaro M, Maraschio P, Pasquali F, Scappaticci S (1977) Women heterozygous for deficiency of the (p21→pter) region of the X chromosome are fertile. Hum Genet 39:283–292
Fryns JP, Petit P, Van den Berghe H (1981) The various phenotypes in Xp deletion. Observations in eleven patients. Hum Genet 57:385–387
Eryns JP, Kleczkowska A, Petit P, Van den Berghe H (1982) Fertility in patients with X chromosome deletions. Clin Genet 22:76–79
Goldman B, Polani PE, Daker MG, Angel RR (1982) Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet 21:36–52
Kalousek D, Schiffrin A, Berguer A-M, Spier P, Guyda H, Colle E (1979) Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature. J Pediatr 94:891–894
Lippe B (1991) Turner syndrome. Endocrinol Metab Clin North Am 20:121–152
Massa G, Vanderschueren-Lodeweyckx M, Malvaux P (1990) LInear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height. Eur J Pediatr 149: 246–250
Massa GG, Vanderschueren-Lodeweyckx M (1991) Age and height at diagnosis in Turner syndrome: influence of parental height. Pediatrics 88:1148–1152
Rosenfield RL (1990) Spontaneous puberty and fertility in Turner syndrome. In: Rosenfeld RG, Grumbach MM (eds) Turner syndrome. Marcel Dekker Inc. New York, pp 131–144
Tanner JM (1962) Growth at adolescence. Blackwell, Oxford
Tanner JM, Whitehouse RH, Takaishi M (1966) Standards from birth to maturity for height, weight, height velocity and weight velocity: British children 1965. Arch Dis Child 41: 454–471
Turner HH (1938) A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566–574
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Massa, G., Vanderschueren-Lodeweyckx, M. & Fryns, J.P. Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome. Eur J Pediatr 151, 893–894 (1992). https://doi.org/10.1007/BF01954124
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01954124