Down's Syndrome Due to Maternal Mosaicism, and the Value of Antenatal Diagnosis

Timson, J.; Harris, Ryan A.; Gadd, R. L.; Ferguson-Smith, M. E.

doi:10.1016/s0140-6736(71)91153-6

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Determination Of Sex1

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1971

2014

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Cited by 13 publications

(2 citation statements)

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“…Early in her present pregnancy lymphocyte cultures showed clear evidence of normal/trisomy G mosaicism. This is one of the rare examples of Down's syndrome due to maternal mosaicism and is reported in more detail by Timson et al (1971). B47, aged 25 and para 1+0, had a son with Down's syndrome (trisomy G) who died during her present pregnancy.…”

Section: Determination Of Sexmentioning

confidence: 84%

Chromosome Analysis before Birth and its Value in Genetic Counselling

Ferguson-Smith¹,

Ferguson‐Smith²,

Nevin³

et al. 1971

BMJ

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Section: Determination Of Sexmentioning

confidence: 84%

Chromosome Analysis before Birth and its Value in Genetic Counselling

Ferguson-Smith¹,

Ferguson‐Smith²,

Nevin³

et al. 1971

BMJ

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“…

The effect of trisomy-G/normal mosaicism is not quite clear. Some mosaic individuals are similar to a mongoloid patient and others are quite normal; the latter has been the case with a few mothers of mongoloid children (5). In view of this variability we thought it of interest to report a case which differs from most of the earlier cases.

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mentioning

confidence: 91%

Trisomy‐g/Normal Mosaicism in a Mentally Retarded Girl With Some Dysplastic Features

1972

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Mosaicism for trisomy 21: A review

Papavassiliou

Charalsawadi

Rafferty

et al. 2014

American J of Med Genetics Pt A

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The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting in mosaicism, the observation of mosaicism in the parents of children with the non-mosaic form of Down syndrome, and the variation in phenotypic outcome for both constitutional and acquired traits present in people with mosaicism for trisomy 21/Down syndrome, including cognition, fertility, and overall phenotypic findings. Additional topics reviewed include the social conditions of people with mosaicism, as well as age-related and epigenetic alterations observed in people with mosaicism for trisomy 21/Down syndrome. .

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Down's Syndrome Due to Maternal Mosaicism, and the Value of Antenatal Diagnosis

Cited by 13 publications

References 13 publications

Chromosome Analysis before Birth and its Value in Genetic Counselling

Chromosome Analysis before Birth and its Value in Genetic Counselling

Trisomy‐g/Normal Mosaicism in a Mentally Retarded Girl With Some Dysplastic Features

Mosaicism for trisomy 21: A review

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