Summary
A chromosome examination was made on 11,148 consecutively live-born children: 93 had a chromosome abnormality and 192 a chromosome variant. The physical aspects of the children with chromosome abnormalities and variants were compared with those of the children with normal karyotypes. Children with aneuploid or unbalanced chromosome abnormalities were more frequently immature or not fully developed at birth than those with normal karyotypes. Birth weight was lower in children with all types of chromosome abnormalities, including reciprocal translocations and chromosome variants. The low birth weight in children with chromosome variants was mainly due to the low birth weight of children with G variants. These children were also subject to a higher frequency of special delivery treatment. Heart disorders were increased in children with aneuploid or unbalanced chromosome abnormalities. The frequency of foetal erythroblastosis was increased in children with short Y as well as in children with acentric fragments. Neonatal mortality was higher in children with aneuploid or unbalanced chromosome abnormalities than in children with normal karyotypes.
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References
Blumenthal I, Variend MS (1972) Maternal urinary oestriol excretion and fetal chromosome abnormalities. Lancet II:1084
Bochkov NP, Antoschina MM, Stonova NS (1966) Abnormalities in sex chromosomes in still-borns and dead children. Genetika 8: 215
Bækgaard W, Nielsen J (1975) Y chromosome length, extraversion-introversion and neuroticism. Br J Soc Clin Psychol 14:197–198
Christensen KR, Nielsen J (1974) Incidence of chromosome aberrations in a child psychiatric hospital. Clin Genet 5:205–210
Friedrich U, Nielsen J (1973) Chromosome studies in 5,049 consecutive newborn children. Clin Genet 4:333–343
Funderburk SJ, Spence MA, Sparkes RS (1977) Mental retardation associated with “balanced's chromosome rearrangements. Am J Hum Genet 29:136
Jacobs PA, Matsuura JS, Mayer M, Newlands IM (1978) A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. Clin Genet 13:37
Jørgensen PI, Trolle D (1972) Low urinary oestriol excretion during pregnancy in women giving birth to infants with Down's syndrome. Lancet II:782
Kadotani Y, Ohama K, Sato H (1969) A chromosome survey in 71 couples with repeated spontaneous abortions and stillbirths. Proc Jap Acad 45:180
Kaösaar MD, Mikelsaar AVN (1973) Chromosome investigation in married couples with repeated spontaneous abortions. Hum Genet 17:277
Kulazhenko VP, Laziuk GH, Levchenko NN, Savenko LA, Usoer SS, Kotovich LG, Ghukova TV, Podleschuk LV (1972) Chromosome aberrations found in parents in cases of recurrent spontaneous abortions. Genetika (Moscow) 8:154
Lubs HA, Lubs ML (1973) Summary of workshop on neonatal cytogenetic surveys. Personal communication
Machin GA, Crolla JA (1974) Chromosome consitution of 500 infants dying during the perinatal period. Hum Genet 23:183
Nielsen J (1978) Large Y chromosome (Yq+) and increased risk of abortion. Clin Genet 13:415–416
Nielsen J, Sillesen I (1975) Incidence of chromosome aberrations among 11,148 newborn children. Hum Genet 30:1–12
Nielsen J, Sillesen I (1976) Follow-up till age 3–4 of unselected children with sex chromosome abnormalities. Hum Genet 33:241–257
Nielsen J, Sillesen I, Sørensen AM, Sørensen K (1979) Follow-up until age 4 to 8 of 25 unselected children with sex chromosome abnormalities, compared with sibs and controls. In: Robinson A, Lubs HA, Bergsma D (eds) Sex chromosome aneuploidy: Prospective studies on children. Birth Defects: Orig Art Ser, XV, 1. The National Foundation, New York
Papp Z, Gardo S, Dalhay B (1974) Chromosome study of couples with repeated spontaneous abortions. Fertil Steril 25:713
Patil SR, Lubs HA (1977) A possible association of long Y chromosomes and fetal loss. Hum Genet 35:233
Rasmussen K, Nielsen J (1981) Personal communication
Robinson A (1974) Neonatal deaths and sex-chromosome anomalies. Lancet I:1223
Sutherland GR, Bauld R, Bain AD (1974) Chromosome abnormality and perinatal death. Lancet I:752
Tharapel AT, Summit RL, Wilroy RS, Martens P (1977) Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 cases. Clin Genet 11:255
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Nielsen, J., Hansen, K.B., Sillesen, I. et al. Chromosome abnormalities in newborn children. Physical aspects. Hum Genet 59, 194–200 (1981). https://doi.org/10.1007/BF00283662
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DOI: https://doi.org/10.1007/BF00283662