The Chromosomes in a Patient Showing Both Mongolism and the Klinefelter Syndrome

Ford, C. E.; Jones, K. W.; Miller, O.J.; Mittwoch, Ursula; Penrose, L. S.; Ridler, M. A. C.; Shapiro, Arthur

doi:10.1016/s0140-6736(59)91891-4

Cited by 327 publications

(97 citation statements)

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“…The first patient with double trisomy combining Down syndrome and Klinefelter syndrome was described by Ford et al (4) in 1959. Since then, about 62 cases have been reported in the literature, which include 36 cases with known parental ages, Kovaleva and Mutton (3) found that the risk for 48,XXY,+21 was age dependent, with a mean maternal age of 33 years and a mean paternal age of 38 years.…”

Section: Discussionmentioning

confidence: 99%

Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

et al. 2012

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Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.

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Section: Discussionmentioning

confidence: 99%

Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

et al. 2012

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“…The presence of two or more sibs affected with a chromosome abnormality may suggest the existence of a familial factor leading to errors in chromosome segregation in families with multiple aneuploid members (Ford, et al, 1959;Lanman, Shlarin, Cooper & Hirschhorn, 1960). Therman, Palu, Smith & Demers (1961) postulated a genetic susceptibility to nondisjunction.…”

Section: Discussionmentioning

confidence: 99%

Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

Awadi¹,

Naguib²,

Bastaki³

et al. 1998

Downs Syndr. Res. Pract.

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“…It is now more than 75 years since the maternal age effect in Down syndrome (DS) was first discovered (Penrose 1933(Penrose , 1934 and 50 years since the genetic background in DS involving extra chromosome 21 material was identified (Book et al 1959, Ford et al 1959, Jacobs et al 1959, Lejeune et al 1959, Penrose et al 1960, Polani et al 1960. In the interim it has become abundantly clear that the origin of the most common type of DS associated with a free extra chromosome 21 (T21) differs from the more rare types that are dependent on extra chromosome 21 material caused by a structural chromosome rearrangement.…”

Section: Down Syndrome 50 Years On: What Do We Know About the Origin?mentioning

confidence: 99%

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

Hultén

Patel²,

Jonasson³

et al. 2010

Reproduction

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We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. In particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent largescale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.

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The Chromosomes in a Patient Showing Both Mongolism and the Klinefelter Syndrome

Cited by 327 publications

References 0 publications

Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

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