Chromosome Studies in Detection of Parents With High Risk of Second Child With Down's Syndrome

Hamerton, J.L.; Briggs, SusanM.; Giannelli, F.; Carter, C.O.

doi:10.1016/s0140-6736(61)91086-8

Cited by 108 publications

(32 citation statements)

References 5 publications

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“…They believed that mosaicism in man was under genetic control as has been shown in maize and drosophila. However Hamerton et al (1961) pointed out that the presence of trisomy 21 in multiple sibs may be due to either mosaicism in one of the parents or an inherited predisposition. Cytogenetically parental translocation, parental mosaicism, and/or structural rearrangements are the underlying causes for recurrent aneuploidy in a family.…”

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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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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“…Mosaicism in man may be under genetic control as has been shown in maize and drosophila. However, the presence of trisomy 21 in multiple sibs may be either due to mosaicism in one of the parents or an inherited predisposition [17]. The prevalence of 1 chromosome 21 mosaicism in a random normal population is not known in most newborn surveys because large numbers of cells are not scored to exclude low grade mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Down’s Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Sibs

Al-Awadi¹,

Naguib²,

Bastaki³

et al. 1999

Med Princ Pract

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Objective: To study the families with recurrent trisomy 21 in sibs, and to understand the increased risk of recurrence in some selected families. The importance of parental mosaicism as a cause for non-disjunction or the possibility of genetic predisposition to non-disjunction is addressed. Methods: Three young unrelated Kuwaiti families each confirmed to have 3 sibs with regular trisomy 21 were investigated. Detailed chromosome analysis of the peripheral blood culture in Down’s syndrome children and their parents was carried out. At least 100 cells in each of the cases were scored to exclude low grade mosaicism. Results: Regular trisomy 21 was confirmed in all the sibs in the three families. Mosaicism was not detected in parents. However, gonadal tissue mosaicism could not be excluded, as it is not practical to study the gonadal biopsy in the parents. Conclusion: Though parental mosaicism (gonadal, more often maternal), has been reported in familial recurrent trisomy 21 cases, no mosaicism could be confirmed in our study. Our finding suggests that the possibility of a genetic predisposition to non-disjunction parental mosaicism should be considered in counselling families having sibs with trisomy 21.

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“…Although it may be suggested that the chromosome abnormalities found in mongolism are the result of mongolism, not the cause, the pedigree described above and similar pedigrees (Penrose et al 1960, Hamerton et al 1961 show that this is not so. The abnormal chromosome, which may differ in detail in different families, is already present, in balanced form, in a physically normal parent.…”

Section: Clinical Features and Cytologymentioning

confidence: 90%

Chromosome Abnormalities

1963

N Engl J Med

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Chromosome Studies in Detection of Parents With High Risk of Second Child With Down's Syndrome

Cited by 108 publications

References 5 publications

Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings

Down’s Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Sibs

Chromosome Abnormalities

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