Summary
The effects of aneuploidy are only partially known in man, but the information available suggests that they are remarkably similar to those inDrosophila melanogaster. The fractions of the haploid genome that can be tolerated in three doses and in one dose approach 7 and 3%, respectively. Hypoploidy is more deleterious than hyperploidy. The phenotypic effects of aneuploidy result in an ‘aneuploid syndrome’ of developmental, mental and growth retardation and multiple malformations. Even if upon closer scrutiny a recognizable collection of dysmorphisms can be detected in some chromosomal imbalances, specific phenotypes result only as the consequence of changes in dosage-sensitive loci. The aneuploidy of man was approached by chromosomal band studies. Available data suggest that R bands may be rich in functional DNA. The proportion of R bands involved in viable imbalances was calculated, and it is concluded that nearly all chromosomal arms tolerate trisomies or monosomies of a proportion of their R band content. This evidence and the demonstration of the involvement of proportionally similar quantities of band type in viable aneuploidies contrast with the idea that imbalances with a higher R band proportion have less chances of survival. Thus band patterns seem to be adequate to provide empirical clinical phenotypes but inadequate to reflect the genetic make-up of a given chromosome.
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References
Calderon D., Schnedl W.: A comparison between fluorescence banding and3H thymidine incorporation patterns in human chromosomes—Hum. Genet.18, 63, 1973.
Dallapiccola B., Baricordi O., Capra L., Mazzilli C.: Leucocyte morphology and chromosome morphology—Acta Genet. med. (Roma)24, 85, 1975.
Dallapiccola B., Calabrg A., Forabosco A., Preto G.: Trisomia 5p—Acta med. auxol.8, 63, 1976.
Dutrillaux B., Fosse A. M.: Utilisation du BrdU dans l'étude du cycle cellulaire de sujets normaux et anormaux—Ann. Génét.19, 95, 1976.
Engel E., Hastings C. P., Merrill R. E., McFarland B. S., Nance W. E.: Apparentcri du chat' and ‘antimongolism’ in one patient—Lanceti, 1130, 1966.
Forabosco A., Dallapiccola B.: La trisomia 4p—Prosp. Pediat.5, 239, 1975.
Grouchy J. De: Chromosome 18: a topologic approach—J. Pediat.66, 414, 1965.
Grouchy J. De, Plachot M., Bouchard R.: Chromosome F en anneau (46, XY, Fr) chez un garçon multimalformé—Ann. Génét.15, 121, 1972.
Grzeschik K. H., Kim May A., Johannsmann R.: Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa—Hum. Genet.29, 41, 1975.
Hall B.: Delaved ontogenesis in human trisomy syndromes—Hereditas (Lund)52, 334, 1965.
Hoehn H.: Annotation: functional implication of differential chromosome banding—Amer. J. hum. Genet.27, 676, 1975.
Kim May A., Johannsmann R., Grzeschik K. H.: Giemsa staining of the sites replicating DNA early in human lymphocyte chromosome—Cytogenet. Cell Genet.15, 363, 1975.
Lindsley D. L., Grell E. H.: Genetic vatiations ofDrosophila melanogaster—Carnegie Inst. Washington Publ. no. 627, 1968.
Lindsley D. L., Sandler L., Baker B. S., Carpenter A. T. C., Denell R. E., Hall J. C., Jacobs P. A., Miklos G. L. G., Davis B. K., Gethmann R. C., Hardy R. W., Hessler A., Miller S. M., Nozowa H., Parry D. M., Gould-Somero M.: Segmental aneuploidy and the genetic gross structure of theDrosophila genome—Genetics71, 157, 1972.
Mange A. P., Sandler L.: A note on the maternal effect mutants daughterless and abnormal oocyte inDrosophila melanogaster—Genetics73, 73, 1973.
Martin G. M., Hoehn H.: Genetics and human disease—Hum. Path.5, 389, 1974.
Orye E., Craen M.: A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution—Clin. Genet.9, 289, 1976.
Paris Conference 1971: Standardisation in human cytogenetics. Birth defects—Original Article Series VIII, no. 7, p. 1. New York, The National Foundation, 1972.
Penrose L. S.: A note on the mean measurements of human chromosomes—Ann. hum. Genet.28, 195, 1964.
Pergament E., Kadotani T., Walczak A., Braudo L.: An infant with a ring-16 chromosome—Hum. Chrom. News Letter17, 18, 1975.
Polani P. E.: Chromosomal and other genetic influence on birth weight variation—In: Ciba Found. Symp. 27, Size at birth. Ass. Sci. Publ., Amsterdam, 1974; p. 127.
Prieur M., Dutrillaux B., Lejeune J.: Planches descriptives des chromosomes humains. (Analyse en bandes R et nomenclature selon la Conférence de Paris, 1971)—Ann. Génét.16, 39, 1973.
Rethoré M. O., Dutrillaux B., Giovannelli G., Forabosco A., Dallapiccola B., Lejeune J.: La trisomie 4p—Ann. Génét.17, 125, 1974.
Rethoré M. O., Lafourcade J.: Trisomie du bras court du 9: syndrome +9p—In: Journées Parisiennes de Pédiatrie. Flammarion, Paris, 1974; p. 379.
Sandler L., Hecht F.: Annotation: genetic effects of aneuploidy—Amer. J. hum. Genet.25, 332, 1973.
Stalder G. R., Bühler E. M., Bühler U. K.: Possible role of heterochromatin in human aneuploidy—Hum. Genet.1, 307, 1975.
Stewart B., Merriam J. R.: Gene dosage change and enzyme specific activities inDrosophila—Genetics71, 262, 1972.
Sutherland G. R., Carter R. F., Morris L. L.: Partial and complete trisomy 9: delineation of a trisomy 9 syndrome—Hum. Genet.32, 133, 1976.
Turleau C., Grouchy J. de, Chavin-Colin F., Roubin M., Brissaud P. E., Repessé G., Safar A., Borniche P.: Partial trisomy 9q: a new syndrome—Hum. Genet.29, 233, 1975.
Yunis J. J.: Interphase deoxyribonucleic acid condensation, late deoxyribonucleic acid replication and gene inactivation—Nature (Lond.)205, 311, 1965.
Yunis J. J., Sanchez O.: The G-banded prometaphase chromosomes of man—Hum. Genet.27, 167, 1975.
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Dallapiccola, B., Calabro, A. & Di Franco, C. Genetics of aneuploidy in man reconsidered by banding studies. La Ricerca Clin. Lab. 8, 113–125 (1978). https://doi.org/10.1007/BF02904983
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DOI: https://doi.org/10.1007/BF02904983