A cytogenetic survey of 11,680 newborn infants

Jacobs, Patricia A.; Melville, Marie M.; Ratcliffe, S G; Keay, A. J.; Syme, James

doi:10.1111/j.1469-1809.1974.tb01843.x

Cited by 382 publications

(187 citation statements)

References 12 publications

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“…Large scale of chromosome surveys of consecutive liveborn hospital births have been performed using conventionally stained preparations in seven different laboratories (Sergovich et at., 1969;Gerald and Walzer, 1970;Lubs and Ruddle, 1970;Jacobs et al, 1974;Bochkov et al, 1974;Hamerton eta[., 1975;Nielsen and Sillesen, 1975). More recently, chromosome surveys of newborn infants utilizing various banding techniques have been published from 3 centers (Linet al, 1976;Hansteen et al, 1982;Bratkowska et aL, 1985).…”

Section: Discussionmentioning

confidence: 99%

A cytogenetic survey of 14,835 consecutive liveborns

et al. 1991

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SummaryThe results of chromosome studies on cultured umbilical cord blood lymphocytes from a consecutive series of 14,835 liveborn infants (7,608 males and 7,227 females) are described. Ninety-three infants (6.27 per 1,000) had a m~or chromosome abnormality. Of these, thirtyone infants (2.09 per 1,000) had sex chromosome abnormalities. Seven male infants had a 47,XXY karyotype, five had a 47,XYY karyotype, and three were mosaics. One male had a ring Y chromosome in all cells examined. A pericentric inversion of the Y chromosome was found in one case. Seven female infants had a 47,XXX karyotype, one had a 45,X karyotype and six were mosaics. Sixty-two infants (4.18 per 1,000) had autosomal abnormalities. There were twenty-one infants with trisomy 21 including one mosaic, six infants with trisomy 18, and two infants with trisomy 13 of a Robertsonian translocation type. Three infants had an unbalanced derivative chromosome resulting from a parental reciprocal translocation. Two infants with a partial monosomy of chromosome 13 were detected. There were four infants carrying an additional small marker chromosome. Twenty-four infants (1.62 per 1,000) had a balanced structural rearrangement of the autosomes; eleven with a Robertsonian translocation, eleven with a reciprocal translocation, and two with a pericentric inversion. The incidence of each type of major chromosome abnormality in this study was quite similar to that obtained from previous newborn surveys. Key Words chromosome abnormality, cytogenetic survey, newborn populationReceived December 21, 198921, ." revised version received February 7, 1991 Accepted February 8, 1991, 117 118 T. MAEDA et al.

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Section: Discussionmentioning

confidence: 99%

A cytogenetic survey of 14,835 consecutive liveborns

et al. 1991

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“…Expected prevalence rates (5.0 per 10 000 births for XXX and XYY and 6.3 for XXY) were obtained from published cytogenetic studies of consecutive newborns in the 1970s. [1][2][3] Information on prenatal detection rates for Down's syndrome cases was extracted for the same registries and time period (2000)(2001)(2002)(2003)(2004)(2005) to give a measure of the extent of prenatal karyotyping.…”

Section: Methodsmentioning

confidence: 99%

“…Cytogenetic surveys of newborn infants carried out in the 1970's established incidence figures for each of the SCTs at around 1 in 1000 same sex individuals. [1][2][3] A recent study reported that the prevalence of Klinefelter's syndrome is increasing. 4 In contrast to the effect of an extra autosome, the effect of an extra sex chromosome is usually mild and most of the individuals born with one never get diagnosed.…”

Section: Introductionmentioning

confidence: 99%

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Boyd

Loane²,

Garne

et al. 2010

Eur J Hum Genet

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This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.

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“…~ The literature cited is shown in Table 2. a Based on articles by: de Hodes et al, 1978;Wilson et aL, 1990Kukolich et al, 1978;Andrews et aL, 1982), as shown in the present case, and 3 cases of short-arm duplication (associated with long-arm deficiency) (Jacobs et al, 1974;Vianna-Morgante et al, 1976;Teyssier and Bajolle, 1980). Among the former, the case reported by Andrews et al (1982) showed duplication of the longer segment (18ql 1-qter).…”

Section: Cytogenetic Studymentioning

confidence: 57%

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

et al. 1991

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SummaryA 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (pll.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (pl 1.2-pter) of chromosome t8. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.

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A cytogenetic survey of 11,680 newborn infants

Cited by 382 publications

References 12 publications

A cytogenetic survey of 14,835 consecutive liveborns

A cytogenetic survey of 14,835 consecutive liveborns

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

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