A G‐band study of chromosomes in liveborn infants

Buckton, K. E.; O'riordan, M. L.; Ratcliffe, S G; Slight, Joan; Mitchell, Marci R.; McBeath, S.; Keay, A. J.; Barr, D. G. D.; Short, M. Priscilla

doi:10.1111/j.1469-1809.1980.tb01556.x

Cited by 111 publications

(54 citation statements)

References 15 publications

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“…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). Surveys with banding techniques were restarted in Edinburgh, Scotland (Buckton et al, 1980) and Risskov, Denmark (Nielsen et al, 1982). However, most of these surveys have been performed on largely Caucasian populations, and less was known about Japanese newborn populations.…”

Section: Discussionmentioning

confidence: 99%

“…In Table 7, the frequencies of sex chromosome abnormalities detected in this survey are presented separately, comparing the two periods together with the data obtained from the seven surveys reviewed by Nielsen and Sillesen (1975) and those summarized from three surveys in the literature in which banding analyses were routinely performed (Lin et al, 1976;Buckton et aL, 1980;Hansteen et al, 1982). The data for sex chromosome abnormalities from two surveys (Nielsen et al, 1982;Bratkowska et al, 1985) are not included in Table 7, since exact numbers of male and female infants were not given in their reports.…”

Section: Discussionmentioning

confidence: 99%

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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%

Section: Discussionmentioning

confidence: 99%

A cytogenetic survey of 14,835 consecutive liveborns

et al. 1991

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“…8 The euchromatic variants of bands 9p12, 9q12/9qh and 9q13 usually involve additional G-band dark, C-band negative, whole chromosome 9 paint-positive euchromatin. The 9p12 euchromatic variant was first described by Buckton et al 9 and involves duplication of B5 Mb 10 or amplification of B1 Mb 11 of segmentally duplicated material that maps to 9p and 9q. The 9q12/9qh euchromatic variant was first reported by Madan 12 and later by others.…”

Section: Introductionmentioning

confidence: 99%

Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

et al. 2006

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Large-scale copy number variation that is cytogenetically visible in normal individuals has been described as euchromatic variation but needs to be distinguished from pathogenic euchromatic deletion or duplication. Here, we report eight patients (three families and two individuals) with interstitial deletions of 9q13-q21.12. Fluorescence in situ hybridisation with a large panel of BACs showed that all the deleted clones were from extensive tracts of segmentally duplicated euchromatin, copies of which map to both the long and short arms of chromosome 9. The variety of reasons for which these patients were ascertained, and the phenotypically normal parents, indicates that this is a novel euchromatic variant with no phenotypic effect. Further, four patients with classical euchromatic variants of 9q12/qh or 9p12 were also shown to have duplications or triplications of this segmentally duplicated material common to both 9p and 9q. The cytogenetic boundaries between the segmentally duplicated regions and flanking unique sequences were mapped to 9p13.1 in the short arm (BAC RP11-402N8 at 38.7 Mb) and to 9q21.12 in the long arm (BAC RP11-88I18 at 70.3 Mb). The BACs identified in this study should in future make it possible to differentiate between clinically significant deletions or duplications and euchromatic variants with no established phenotypic consequences.

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“…3, 1988 groups. In addition, a similar variant was also detected in chromosome 9 (Buckton et al, 1980;Archidiacono et al, 1984;Spedicato et al, 1985). The origin and nature of this extra chromosomal materials, which apparently does not contain active genes but differs from usual heterochromatin in staining properties, remains to be established.…”

Section: Resultsmentioning

confidence: 82%