Summary
Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.
Similar content being viewed by others
References
Chern CJ, Kennet R, Engel E, Melman WJ, Croce CM (1977) Assignment of the structural genes for the α subunit of hexosaminidase A, mannose phosphate isomerase and pyruvate kinase to the region q22→qter of human chromosome 15. Somatic Cell Genet 3:553–560
Clark RD (1984) Letter to the editor: Del(15)(q22;q24). Syndrome with Potter sequence. Am J Med Genet 19:703–705
Fryns JP, Van den Berghe H, Muelenaere A de (1982) Interstitial deletion of the long arm of chromosome 15. Ann Génét (Paris) 25:59–60
Fryns JP, Kleczkowska A, Buttiens M, Jonckheere P, Brouckmans-Buttiens K, Van den Berghe H (1986) Ring chromosome 15 syndrome. Further delineation of the adult phenotype. Ann Génét (Paris) 29:45–48
Hasegawa T, Hara M, Ando M, Osawa M, Furuyama Y, Takahashi M, Yamada K (1984) Cytogenetic studies of familial Prader Willi syndrome. Hum Genet 65:325–330
Hellkuhl B, Mayr WR, Grzeschik KH (1978) Localisation of MPI, PKM2, IDHM and the α subunit of hexosaminidase to the q21→qter region of human chromosome 15. Cytogenet Cell Genet 22:503–505
Kucherlapati RS, Ruddle FH (1975) Assignment of the human genes for mannose phosphate isomerase, pyruvate kinase (M2), and hexosaminidase A to chromosome 15. (3rd International Workshop on Human Gene Mapping) Cytogenet Cell Genet 16:181–183
Lacro RV, Jones RL, Mascarello JT, Jones O, Wilson N, Jones MC (1987) Duplication of distal 15q: report of five new cases from two different translocation kindreds. Am J Med Genet 26:719–728
Magenis RE, Vidgoff J, Chamberlin J, Brown MG (1979) Exclusion of hex A from regions pter-q14 and q25.1→q26.3 or q23.00→q26.2 of chromosome 15. Cytogenet Cell Genet 25:181–182
Nakai H, Byers MG, Shows TB (1987) Mapping Hex A to 15q23-q24. 9th International Workshop on Human Gene Mapping, poster no 679
Oliver N, Francke U, Pellignino MA (1978) Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and β2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22)(q14;q13.3) translocation carrier. Cytogenet Cell Genet 22:506–510
Van Heyningen V, Bobrow M, Bodmer WF, Gardiner SE, Povey S, Hopkinson DA (1975) Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannose phosphate isomerase and pyruvate kinase to 15, and probably esterase D to 13. Ann Hum Genet 38:295–304
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Formiga, L.d.F., Poenaru, L., Couronne, F. et al. Interstitial deletion of chromosome 15: two cases. Hum Genet 80, 401–404 (1988). https://doi.org/10.1007/BF00273663
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00273663