Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

Awadi, Al; Naguib,; Bastaki,; Gouda,; Mohammed, Osama A.; Abulhasan,; Al-Ateeqi,; Murthy, K. V. M. K.

doi:10.3104/reports.89

Cited by 7 publications

(5 citation statements)

References 21 publications

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“…This abnormality has been recently described in a pair of monozygotic twins (Iliopoulos et al 2004). Both sibs of the proband showing 48,XXY,+21 were found to exhibit trisomy 21 in yet another study (Al Awadi et al 1998…”

Section: Introductionsupporting

confidence: 56%

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Double aneuploidy in a Turkish child: Down–Klinefelter syndrome

Karaman¹,

Kabalar

2008

Congenital Anomalies

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The occurrence of double aneuploidy in the one person is a relatively rare phenomenon. A 5-year-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband's parents and his brother showed normal karyotype. The phenotypic characteristics of the child have been discussed in light of the published reports on double aneuploidies of XXY and trisomy 21.

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Section: Introductionsupporting

confidence: 56%

“…2004). Both sibs of the proband showing 48,XXY,+21 were found to exhibit trisomy 21 in yet another study (Al Awadi et al . 1998).…”

Section: Introductionmentioning

confidence: 86%

Double aneuploidy in a Turkish child: Down–Klinefelter syndrome

Karaman¹,

Kabalar

2008

Congenital Anomalies

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“…This abnormality has also been described in a pair of monozygotic twins [25]. Further, both the sibs of the proband showing 48,XXY,+21 were found to exhibit trisomy 21 in yet another study [26]. Hamerton et al have summarized the data on the frequency of 48,XXY,+21 males and concluded that the expected incidence of double trisomics based on chance association should be about 0.31x10 -5 live-born males [27].…”

Section: Down and Klinefelter Syndrome (47xxy)mentioning

confidence: 82%

Double Aneuploidy in Down Syndrome

Söylemez¹

2015

Health Problems in Down Syndrome

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Aneuploidy is the second most important category of chromosome mutations relating to abnormal chromosome number. It generally arises by nondisjunction at either the first or second meiotic division. However, the existence of two chromosomal abnormalities involving both autosomal and sex chromosomes in the same individual is relatively a rare phenomenon. The underlying mechanism involved in the formation of double aneuploidy is not well understood. Parental origin is studied only in a small number of cases and both nondisjunctions occurring in a single parent is an extremely rare event. This chapter reviews the characteristics of double aneuploidies in Down syndrome have been discussed in the light of the published reports.

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“…It does not usually occur as a result of an inherited likelihood, although it does appear that some families seem to be prone to errors of nondisjunction raising their risk slightly. 4,5 This family tendency is not something that can be tested at this time, so when a couple has already had a child with Down syndrome and is expecting another child, they will most likely be told that their risk of having a second child with Down syndrome is approximately 1% plus the risk associated with the mother's age. 1,6 There is some disagreement in the literature about this risk and how to calculate it in part because the conception of a second child with Down syndrome as a result of nondisjunction to the same parents is very uncommon.…”

Section: Nondisjunctionmentioning

confidence: 99%

A Parent's Guide to the Genetics of Down Syndrome

Hartway¹

2009

Advances in Neonatal Care

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Down syndrome is a genetic disorder, occurring when an individual has all or part of an extra copy of chromosome 21. Parents of children with Down syndrome are often confused by the term genetic disorder because they associate the term with inheritance but have also learned that Down syndrome is not typically inherited. These parents may have questions about the nature of chromosomes, how Down syndrome occurs, recurrence risk and more. This article attempts to address many of the common questions parents of children with Down syndrome express regarding the genetics of the disorder including the mechanisms by which Down syndrome occurs: nondisjunction, translocation and mosaicism, as well as providing information about prenatal testing options, how the diagnosis is made and where parents may go for further information.

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Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

Cited by 7 publications

References 21 publications

Double aneuploidy in a Turkish child: Down–Klinefelter syndrome

Double aneuploidy in a Turkish child: Down–Klinefelter syndrome

Double Aneuploidy in Down Syndrome

A Parent's Guide to the Genetics of Down Syndrome

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