Summary
In a series of 450 products of conception received for cytogenetic analysis, tissue culture was attempted on 309, and karyotypes were established using banding techniques in 154 singleton specimens. Abnormalities of karyotype were identified in 19%; of these abnormalities, 48% were autosomal trisomies. Gestational age was decreased in the abnormal specimens, and their developmental age was retarded by comparison with their gestational age. Factors contributing to the relatively low incidence of abnormality are examined. The major factor appears to be the clinical interest of collaborating staff, leading to selection, either intentional or unintentional, of particular phenotypes and hence a non-random series. A negative relationship is suggested between frequency of monsomy X and autosomal trisomy, both being associated with maternal age.
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References
Alberman ED (1973) The epidemiology of spontaneous abortions and their chromosome constitution. In: Boué A, Thibault C (eds) Proc. Symp. chromosomal errors in relation to reproductive failure. INSERM, Paris, p 305
Arakaki DT, Waxman SH (1970) Chromosome abnomalities in early spontaneous abortions. J Med Genet 7:118
Birkbeck JA, Billewicz WZ, Thomson AM (1975) Foetal growth from 50–150 days of gestation. Ann Hum Biol 2:319
Boué JG, Boué A, Phillipe E, Giroud A, Deluchat C (1972) Phenotypes of karyotyped abortuses. Bull Eur Soc Hum Genet 32:1
Boué JG, Boué A, Lazar P (1975a) Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous abortions. Teratology 12:11
Boué JG, Boué A, Lazar P (1975b) The epidemiology of human spontaneous abortions with chromosomal anomalies. In: Blandau RJ (ed) Aging gametes. Karger, Basle, p 330
Carr DH (1963) Chromosome studies in abortions and stillborn infants. Lancet II:603
Carr DH (1971) Chromosomes and abortion. In: Harris H, Hirschhorn K (eds) Advances in human genetics 2. Plenum, London, p 201
Carr DH, Gedeon MM (1978) Q-banding of chromosomes in human spontaneous abortions. Can J Genet Cytol 20:415
Clendenin TM, Benirschke K (1963) Chromosome studies on spontaneous abortions. Lab Invest 12:1281
Creasy MR, Crolla JA, Alberman ED (1976) A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet 31:177
Dhadial RK, Machin AM, Tait SM (1970) Chromosomal anomalies in spontaneously aborted human foetuses. Lancet II:20
Geisler M, Kleinebrecht J (1978) Cytogenetic and histologic analyses of spontaneous abortions. Hum Genet 45:239
Hasshold TJ, Matsuyama A, Newlands IM, Matsuura JS, Jacobs PA, Manuel B, Tsuei J (1978) A cytogenetic study of spontaneous abortions in Hawaii. Ann Hum Genet 41:443
Hungerford DA (1965) Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol 40:333
Javert CT (1957) Spontaneous and habitual abortion. McGraw-Hill, N.Y.
Kajii T, Ohama K, Niikawa N, Perrier A, Avirachan S (1973) Banding analysis of abnormal karyotypes in spontaneous abortion. Am J Hum Genet 25:539
Kajii T, Ohama K, Mikama K (1978) Anatomic and cytogenetic studies on 944 induced abortuses. Hum Genet 43:247
Kajii T, Ohama K (1979) Inverse maternal age effect in monosomy X. Hum Genet 51:147
Kajii T, Ferrier A, Niikawa N, Takahara H, Ohama K, Avirachan S (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55:87
Kishi K, Tonomura A (1979) cited in Kajii and Ohama (1979) p 150
Lauritsen JG (1976) Aetiology of spontaneous abortion. A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet Gynaecol Scand, Suppl 52:1
Lauritsen JG (1977) Genetic aspects of spontaneous abortion. Dan Med Bull 24:169
Mall FP (1915) On the fate of the human embryo in tubal pregnancies. Contrib Embryol 1:1
Mall FP, Meyer AW (1921) Studies on abortuses: a survey of pathologic ova in the Carnegie embryological collection. Contrib Embryol 12:1
Nielsen J, Sillesen I (1975) Incidence of chromosome abberations among 11,148 newborn children. Hum Genet 30:1
Paris Conference (1971) Standardization in human cytogenetics. Birth Defects Orig Articles Series 8:1. The National Foundation, March of Dimes, N.Y.
Pawlowitzki IH (1972) Frequency of chromosome abnormalities in abortions. Humangenetik 16:131
Shapiro S, Jones EW, Densen PM (1962) A life table of pregnancy terminations and correlates of fetal loss. Millbank Mem Fund Quart 40:7
Singh RP, Carr DH (1967) Anatomic findings in human abortions of known chromosome constitution. Obstet Gynecol 29:806
Stenchever MA, Hempel JM, MacIntyre MN (1967) Cytogenetics of spontaneously aborted human fetuses. Obstet Gynecol 30:683
Stevenson AC, Dudgeon MY, McClure HI (1959) Observations on the results of pregnancies in women resisdent in Belfast. II. Abortions, hydatiform moles and ectopic pregnancies. Ann Hum Genet 23:395
Takahara H, Ohama K, Fujiwara A (1977) Cytogenetic study in early spontaneous abortion. Hiroshima J Med. Sci 26:291
Warburton D, Kline J, Stein Z (1980) Monosomy X; a chromosomal anomaly associated with young maternal age. Lancet I:167
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Andrews, T., Dunlop, W. & Roberts, D.F. Cytogenetic studies in spontaneous abortuses. Hum Genet 66, 77–84 (1984). https://doi.org/10.1007/BF00275191
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DOI: https://doi.org/10.1007/BF00275191