Summary
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy-and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia, small low-set posteriorly rotated ears, asymmetrical thorax, wide-spaced nipples, and minor abnormalities of hands and feet. Both parents and a brother had normal karyotypes.
Expression of more than 50 polymorphic gene loci determining blood groups, serum proteins and red cell enzymes was studied. The results did not permit localization of a gene locus on the deleted segment of chromosome 10. The proposita was heterozygous for the Rh and MN blood groups and for the red cell enzymes adenosine deaminase, glutamate pyruvate transaminase and esterase D. These gene loci are thereby excluded from region 10p13→10pter.
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References
Alfi, O., Donnell, G. N., Crandall, B. F., Derencsenyi, A., Menon, R.: Deletion of the short arm of chromosome No. 9 (46, 9p-): A new deletion syndrome. Ann. Génét. 16, 17–22 (1973)
Alfi, O. S., Sanger, R. G., Sweeny, A. E., Donnell, G. N.: 46, del(9)(22): A new deletion syndrome, Clinical cytogenetics and genetics. Birth Defects: Original Article Series X, No. 8, 27–34 (1974)
Cantu, J. M., Salamanca, F., Buentello, L., Carnevale, A., Armendares, S.: The 10p trisomy. A report of two cases due to a familial translocation rep (10;21) (p11;p11). Ann. Génét. (in press)
De Grouchy, J., Veslot, J., Bonnette, J., Roidot, M.: A case of ?6p— chromosomal aberration. Amer. J. Dis. Child. 115, 93–99 (1968)
Dutrillaux, B.: Nouveau système de marquage chromosomique: les bandes T. Chromosoma (Berl.) 41, 395–402 (1973)
Elliott, D., Thomas, G. H., Condron, C. J., Khuri, N., Richardson, F.: C-group chromosome abnormality (?10p-). Occurrence in a child with multiple malformations. Amer. J. Dis. Child. 119, 72–73 (1970)
Friedrich, U., Nielsen, J.: Autosomal deletions 46, XY, del(12)(p11) and 46,XY/46,XY,del(5) (p13) with no effect on physical or mental development. Humangenetik 21, 127–132 (1974)
Lejeune, J., Berger, R., Rethoré, M. O., Archambault, L., Jerome, H., Thieffry, S., Aicardi, J., Broyer, M., Lafourcade, J., Cruveiller, J., Turpin, R.: Monosomie partielle pour un petit acrocentrique. C.R. Acad. Sci. (Paris) 259, 4187–4190 (1964)
Mayeda, K., Weiss, L., Lindahl, R., Dully, M.: Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Amer. J. hum. Genet. 26, 59–64 (1974)
Paris Conference (1971): Standardization in Human Cytogenetics. Birth Defects: Original Article Series VIII, No. 7 (1972)
Podruch, P. E., Weisskopf, B.: Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q-) in three generations. J. Pediat 85, 92–95 (1974)
Rethoré, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9p par dénaturation ménagée. Humangenetik 18, 129–138 (1973)
Schleiermacher, E., Schliebitz, U., Steffens, C., Rompe, G., Schmidt, U.: Brother and sister with trisomy 10p: A new syndrome. Humangenetik 23, 163–172 (1974)
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Supported by USPHS grants GM21110-01 and GM17702-05.
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Francke, U., Kernahan, C. & Bradshaw, C. Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies. Hum Genet 26, 343–351 (1975). https://doi.org/10.1007/BF00285386
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DOI: https://doi.org/10.1007/BF00285386