Prenatal Diagnosis of Double Trisomy

Hsu, Lillian Y. F.

doi:10.1001/archpedi.1975.02120400079021

Cited by 5 publications

(7 citation statements)

References 14 publications

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“…This would imply the preferential occurrence of both NDJ events leading to double aneuploidy in one and the same parent. Although a number of cases with double aneuploidy have been reported, parental origins were studied in only a few cases [Hsu et al, 1975;Schmidt et al, 1978;Mikkelsen et al, 1980;Teramoto et al, 1985;Ikonen et al, 1989;Lorda-Sanchez et al, 1991;Stabile et al, 1994;Park et al, 1995;Robinson et al, 2001]. In two cases, aneuploidies were derived from both the mother and the father [Hsu et al, 1975;Lorda-Sanchez et al, 1991].…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically determined. Data collected from the National Down syndrome Cytogenetic Register (NDSCR) in England and Wales and from the literature indicate that the frequencies of all nonmosaic DAs, except for 48,XXY,+21, are lower than expected, probably because of strong intrauterine selection against such pregnancies. Collectively, we identified 52 cases of nonmosaic 48,XXY,+21; 28 cases of 48,XYY,+21; and 14 cases of 48,XXX,+21 in liveborns and 13 cases of 48,XXY,+21; four cases of 48,XYY,+21; and two cases of 48,XXX,+21 after prenatal diagnoses. Among these cases, analysis of the published unbiased cytogenetic surveys of liveborn DS revealed 24 cases of 48,XXY,+21; nine cases of 48,XYY,+21; and seven cases of 48,XXX,+21. These figures are different from the expected proportion of 1:1:1 (P < 0.001), with carriers of XXY overrepresented in the group of carriers of DA. Mechanisms put forth to account for the higher occurrence of 48,XXY,+21 may include greater accessibility of disomic ovum to Y-carrying sperm, and promotion of NDJ in ovum by Y-bearing sperm. 48,XXY,+21 DA was found to be age-dependent, as the proportion of mothers over age 35 (x = 33.0) was increased over the general population. This is in contrast to the apparently age-independent 48,XYY,+21 DA, with a mean maternal age of 24.7 (P < 0.001). Paternal ages were also remarkably different between the groups, with a mean age of 37.9 in 48,XXY,+21 cases and a mean age of 27.9 in 48,XYY,+21 cases (P < 0.01). Maternal age-related factors, rather than genetic predisposition, may play a more important role in the etiology of the most common DA, 48,XXY,+21.

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Section: Introductionmentioning

confidence: 99%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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“…Disomy Y due to meiotic nondisjunction in spermatogenesis is thought to be the origin of the additional Y chromosome [Osztovics et al, 1971;Al-Ash et al, 1971;Hsu et al, 1975;Stoll et al, 19761. The origin of the extra chromosome 21 in our patient cannot be determined without further cytogenetic or DNA analysis, but his parents firmly declined.…”

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confidence: 99%

“…Two reports using chromosome heteromorphisms [Schmidt et al, 1978;Teramoto et al, 19851 postulated nondisjunction at paternal meiosis I1 as the origin of the 48,XYY,+21. Using cytogenetic techniques, Hsu et al [1975] determined the origin of the extra chromosome 21 as maternal and the extra chromosome Y as paternal. The meiosis stage of the maternal 21 was not reported.…”

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confidence: 99%

Another case of prenatally diagnosed 48,XYY,+21

et al. 1995

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“…Various chromosomal trisomies have been detected prenatally, such as trisomy 21 (Hsu et al 1973a, Milunsky 1973, trisomy 18 (Hsu et al 1973b), trisomy 13 (Butler et al 3973), trisomy 22 (Milunsky 1973), X X Y ), X Y Y (Hsu et al 1975), and X X X (our unpublished data). To our knowledge this is the first such occurrence of three successive pre-natal diagnoses of the same trisomy and the same sex.…”

Section: Discussionmentioning

confidence: 71%

Three successive prenatal diagnoses of 47,XY,+21

Godmilow

et al. 1976

Clinical Genetics

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Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY, +21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of trisomy 21 and a male fetus was made. This suspicion increased when the third case was found within 3 working days. All three cases were then studied with both Q and G banding for identification of individual chromosome markers. Fortunately, the distinction was clear by Q‐banding. Each case showed characteristic Q‐banding polymorphisms in No. 3 and No. 21 chromosomes. It was evident that these were three separate cases. Problems relating to diagnosis of two or more successive identical trisomies of the same sex can be resolved by banding techniques. The response each family had to learning the diagnosis is presented and discussed.

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Prenatal Diagnosis of Double Trisomy

Cited by 5 publications

References 14 publications

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Another case of prenatally diagnosed 48,XYY,+21

Three successive prenatal diagnoses of 47,XY,+21

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