Summary
A family in which an interstitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate, agenesis of the corpus callosum, and severe mental retardation. The possible causal relationship to his chromosome abnormality is discussed. Although the deletion occurred within the critical region, the mother showed no signs of gonadal dysgenesis. A phenotypically normal daughter was, as her mother, monosomic for this region of the X, and both showed random inactivation of the X chromosome.
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Allerdice PW, Miller OJ, Miller DA, Klinger HP (1978) Spreading of inactivation in an (X;14) translocation. Am J Hum Genet 2: 233–240
Barnabei VM, Wyandt HE, Kelly TE (1981) A possible exception to the critical region hypothesis. Am J Hum Genet 33:61–66
Chapelle A de la, Schróder J, Haahtela T, Aro P (1975) Deletion mapping of the human X chromosome. Heriditas 80:113–120
Langmann J (1981) Medical embryology, 4th edn. Williams and Wilkins Company, Baltimore London, pp 282–286, 345
Madan K, Hompes PGA, Schoemaker J, Ford CE (1981) X-Autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter. Hum Genet 59:290–296
Mattei MG, Mattei JF, Vidal I, Giraud F (1981) Structural anomalies of the X chromosome and inactivation center. Hum Genet 56: 401–408
Melnick M, Bixler D, Fogh-Andersen P, Conneally PM (1980) Cleft lip ± cleft palate: An overview of the literature and an analysis of Danish cases between 1941 and 1968. Am J Med Genet 6:83–97
Nakagome Y (1982) Inactivation centers in the human X chromosome. Am J Hum Genet 34:182–194
Parrish ML, Roessmann U, Levinsohn MW (1979) Agenesis of the corpus callosum: A study of the frequency of associated malformations. Ann Neurol 6:349–354
Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet 61:364–368
Sarto GE, Therman E, Patau K (1973) X inactivation in man: A woman with t(Xq-;12q+). Am J Hum Genet 25:262–270
Saxén I (1975) The association between maternal influenza, drug consumption, and oral clefts. Acta Odont Scand 33:259–267
Steinbach P, Horstmann W, Scholz W (1980) Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 54:309–313
Summitt RL, Tipton RE, Wilroy RS, Martens PR, Phelan JP (1978) X-Autosome translocations: A review. Birth Defects 14:219–247
Therman E, Denniston C, Sarto GE, Ulber M (1980) X chromosome constitution and the humam female phenotype. Hum Genet 54: 133–143
Therman E, Patau K (1974) Abnormal X chromosomes in man: Origin, behavior and effects. Hum Genet 25:1–16
Therman E, Sarto GE, Palmer CG, Kallio H, Denniston C (1979) Position of the human X inactivation center on Xq. Hum Genet 50:59–64
Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205–206
Wegner R-D (1982) Translocation t(X;1) and the “critical region hypothesis” Hum Genet 61:79
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Supported in part by grants to E.N. from the Carl Petersen's Foundation (B 995) and the Danish Medical Research Council (512-4276)
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Tabor, A., Andersen, O., Lundsteen, C. et al. Interstitial deletion in the “critical region” of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet 64, 196–199 (1983). https://doi.org/10.1007/BF00327127
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DOI: https://doi.org/10.1007/BF00327127