A cytogenetic survey of 14,835 consecutive liveborns

Abstract

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.

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes

“…When taken separately, the frequency of these abnormalities does not statistically differ from that observed in 11 680, 3993 and 34 910 newborns by Jacobs et al (1974) (P = 0.35), Buckton et al (1980) (P = 0.92) and Nielsen and Wohlert (1991) (P = 0.58), respectively. The difference is, however, significant when comparing our results to those obtained by Hamerton et al (1975) (P = 0.04), Hansteen et al (1982) (P = 0.03) and Maeda et al (1991) (P = 0.02) in 13 939, 1830 and 14 835 children at birth, respectively.…”

“…Large-scale studies focusing on the prevalence of both balanced and unbalanced chromosomal abnormalities in humans have been realized within unselected newborn populations (Jacobs et al, 1974;Hamerton et al, 1975;Buckton et al, 1980;Hansteen et al, 1982;Maeda et al, 1991;Nielsen and Wohlert, 1991). On the contrary, the frequency of chromosomal aberrations in adults has been established only in cases of couple infertility (Van Assche et al, 1996;Gekas et al, 2001;Vincent et al, 2002) or recurrent spontaneous miscarriages (Fryns and Van Buggenhout, 1998), mainly because ethical and practical reasons make large-scale cytogenetic studies in normal adults difficult to set up.…”

“…The prevalence of chromosomal abnormalities in man has been extensively analysed during the seventies and eighties through large-scale karyotype studies performed in unselected newborns (Jacobs et al, 1974;Hamerton et al, 1975;Buckton et al, 1980;Hansteen et al, 1982;Maeda et al, 1991;Nielsen and Wohlert, 1991). On the other hand, cytogenetic studies in adults have always been performed in patients carrying various physical, physiological or psychological disabilities.…”

Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases

“…Since cytogenetic abnormalities prenatally diagnosed by amniocentesis show a higher rate of spontaneous abortion and/or stillbirth than cytogenetically normal fetuses (Hook 1983;Hook et al 1988Hook et al , 1989Halliday et al 1995;Macintosh et al 1995), the incidence at prenatal testing is markedly different from that at live birth. Compared to the previous reports of nonmosaic aneuploidies diagnosed in live births (Hook et al 1984;Mutton et al 1991), the abnormal karyotypes and their order revealed in this study were almost the same, with some exceptions, but the incidences of each nonmosaic aneuploidy were markedly higher; for example, the incidence of trisomy 21 in Japan is 1.42␣ /␣ 1000 live births (Maeda et al 1991). These higher incidences may be caused by selective miscarriage occurring during the second or third trimester of pregnancy, and the fetus with the aneuploidy may be stillborn.…”

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

“…However, a recent Belgian study described a significantly higher prevalence of Klinefelter syndrome among male-to-female GD [184] than expected, based on the population data [185]. In addition, a recent study showed the presence of higher dysphoric symptoms in Klinefelter persons compared to a group of healthy controls [186].…”