Chromosomal Mosaicism and Mongolism

Zellweger, H; Abbo, G

doi:10.1016/s0140-6736(63)91529-0

Cited by 30 publications

(9 citation statements)

References 8 publications

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“…Ascertainment of apparently normal persons with mosaicism has occurred by studying parents of children with Down's syndrome (Timson et al 1971). Some studies have suggested that in persons with clinical signs of Down's syndrome, mosaicism with a normal cell line results in a less severely affected phenotype than found in non-mosaic Down's syndrome (Zellweger & Abbo 1963, Shipe at al. 1968, Grosse et al 1971.…”

Section: Discussionmentioning

confidence: 99%

Decreasing mosaicism in Down's syndrome

1980

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A girl with trisomy‐21/normal mosaicism has been abserved for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome, mosaicism with a normal cell line may dilute the typical appearance of Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisornic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4 % trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.

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Section: Discussionmentioning

confidence: 99%

Decreasing mosaicism in Down's syndrome

1980

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“…(1994) stated that the majority of phenotypic characteristics are variable, with the exception of intellectual disability and neonatal hypotonia. Other studies ( Zellweger & Abbo 1963; Shipe et al . 1968 ; Grosse et al .…”

Section: Introductionmentioning

confidence: 88%

A case of mosaic trisomy 21 with Down's syndrome signs and normal intellectual development

Moreira

Juan²,

Pereira

et al. 2000

J intellect Disabil Res

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The present case study describes an adult male with clinical signs of mild Down's syndrome (DS), who performed well at school and reached university level. A karyotype was done on a lymphocyte culture and mosaic trisomy 21 was found in 3% of the 437 cells analysed. Eleven signs from Jackson's checklist were found in the clinical evaluation, which along with the analysis of the subject's dermatoglyphic traits, confirmed the DS diagnosis. Cognitive evaluation was done with several psychological tests and the results were within the average range. This rare phenotypic association shows that normal intellectual development may be possible in DS. This finding could be explained by the low trisomic cell frequency, which may have little effect on the critical tissues for intellectual development, and it might also reflect the wide phenotypic variation in mosaic trisomy 21. Other factors, such as strong family support, early and continued intervention programmes for both physical and speech therapy, and a thorough educational process, also provided opportunities for the development of the cognitive potential of the subject.

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“…Autoradiographs were prepared from 72-hour cultures and from skin culture chromosomes according to the method described by Schmid (1963). Zellweger and Abbo (1963) described different translocations in the cells of the same individual with Down's syndrome. Their case was a girl with mosaicism including four different cell lines.…”

Section: Methodsmentioning

confidence: 99%