Abnormal children of a 47,XYY father.

Stoll, Christoph; Flori, Elisabeth; Clavert, A.; Beshara, D; Buck, PO

doi:10.1136/jmg.16.1.66

Cited by 13 publications

(12 citation statements)

References 3 publications

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“…The two new cases reported here as Polymorphic regions of 21s by Q banding in patient 2 suggesting nondisjunction at maternal well as other from the literature [Stoll et al, 1979;Pope et al, 19791 support these findings.…”

Section: Discussionsupporting

confidence: 91%

“…These included offspring with chromosome constitutions 47,XYY [Sundequist and Hellstrom, 19691, 47,XY,?Yq-[Neilson et al, 19711, 47,XX, +21 [Hauschka et al, 1962;Stoll et al, 19791, mosaics [Tzoneva-Maneva et al, 1966;Stoll et al, 1979;Hauschka et al, 19621, and other chromosome abnormalities, eg, duplication-deficiency products of inversions [Pope et al, 1979). Several authors have described testicular histology and meiosis, investigating the possibility of secondary nondisjunction in XYY males [Baghdassarian et al, 1975;Chandley et al, 1976a,b;Evans et al, 1970;Faed et al, 1976;Hsu et al, 1970;HultCn, 1970;HultCn and Pearson, 1971;Luciani et al, 1973;Melnyk et al, 1969;Skakkebaek et al, 1973;Tettenborn et al, 19701.…”

Section: Introductionmentioning

confidence: 99%

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Reproduction in XYY males: Two new cases and implications for genetic counseling

Grass¹,

McCombs

Scott

et al. 1984

Am. J. Med. Genet.

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We present two children--one, 47,XY, + mar, and the other, 47,XY, + 21. Both fathers were found to have a 47,XYY chromosome constitution. The initial assumption was that the fathers' aneuploid conditions contributed to those of the offspring. However, the derivation of the marker chromosome could be paternal, maternal, or postzygotic, and examination of polymorphic structures of the number 21 chromosomes of the child with Down syndrome and his parents suggested maternal derivation of the supernumerary 21. To explore further the reproductive risks of an individual with the XYY constitution, previous reports of reproductive performance and testicular histology are examined as are two theories which suggest XYY males may be at an increased risk of producing aneuploid progeny. Based on these reports, recommendations are made for testing XYY males prior to genetic counseling.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Reproduction in XYY males: Two new cases and implications for genetic counseling

Grass¹,

McCombs

Scott

et al. 1984

Am. J. Med. Genet.

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“…In the first two cases, the parental origin of the extra chromosome 21 was not determined [Hauschka et al, 1962;Stoll et al, 1979]. In the other two, an examination of chromosome polymorphisms indicated that the supernumerary chromosome 21 came from the mothers [Grass et al, 1984;Stoll et al, 1979]. Our two-color FISH analysis of sperm from two 47,XYY patients [Martin et al, 1999;the present communication] (Table III), do not show a significant increase in the frequency of disomy 21.…”

Section: Discussionmentioning

confidence: 50%

“…Four children with autosomal aneuploidy whose father had a 47,XYY karyotype have been reported so far and all of them had trisomy 21 [Hauschka et al, 1962;Stoll et al, 1979;Grass et al, 1984]. In the first two cases, the parental origin of the extra chromosome 21 was not determined [Hauschka et al, 1962;Stoll et al, 1979].…”

Section: Discussionmentioning

confidence: 99%

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Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature

Shi

Martin

2000

Am. J. Med. Genet.

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The frequencies of aneuploid and diploid sperm were determined in a 47,XYY male using multi-color fluorescence in situ hybridization (FISH) analysis, and compared with those from 10 control donors. A total of 30,078 sperm from the patient was scored, 15,044 by two-color FISH for chromosomes 13 and 21, and 15,034 by three-color FISH for the sex chromosomes using chromosome 1 as an internal autosomal control for diploidy and lack of hybridization. The frequencies of X-bearing (49.73%) and Y-bearing sperm (49.46%) in control males were not significantly different from the expected 50% (chi(2)-test for goodness of fit). The ratio of 24,X (50.60%) to 24, Y sperm (48.35%) in the patient, however, was significantly different from the controls (P = 0.0144, chi(2)-test for independence) and from the expected 1:1 ratio (P = 0.0055, chi(2)-test for goodness of fit). There was no significant increase in the frequency of diploid sperm when compared with the controls (chi(2)-test for independence). Significantly increased frequencies were found for 24,YY (0.07% vs. 0.02%, P = 0.0009) and 24,XY (0.44% vs. 0.29%, P = 0.0025), but not for 24,XX (0.05% vs. 0.05%, P > 0. 05), 24,+13 (0.07% vs. 0.07%, P > 0.05) or 24,+21 sperm (0.21% vs. 0. 18%, P > 0.05) in the 47,XYY male when compared with control donors (chi(2)-test for independence). Our results support the theory that loss of the extra Y chromosome occurs during spermatogenesis in most cells. In this XYY patient there was a significant increase in the frequency of sperm with sex chromosomal abnormalities but no suggestion of an inter-chromosomal effect on autosomes. All 3-color FISH studies in the literature demonstrate a significantly increased risk of gonosomal aneuploidy in XYY males, with the risk being on the order of 1%.

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Editor's introduction

Klassen

Offringa

2006

Evid.-Based Child Health

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Welcome to the first issue of Evidence Based Child Health: A Cochrane Review Journal. The purpose of this journal is to bring an amazing resource to the attention of pediatricians, nurses, allied health personnel, parents, children, and youth. The Cochrane Library houses over 2600 systematic reviews of research evidence on health care interventions. Of these reviews, we estimate that at least 500 are directly relevant to child health issues. This Journal will regularly highlight relevant, timely and topical Cochrane reviews, to inform evidence-based decision-making in child health.

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Abnormal children of a 47,XYY father.

Cited by 13 publications

References 3 publications

Reproduction in XYY males: Two new cases and implications for genetic counseling

Reproduction in XYY males: Two new cases and implications for genetic counseling

Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature

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