Mosaic mongolism. I. Clinical correlations

Kohn, Gertrude; Taysi, Kutay; Atkins, Thomas; Mellman, William J.

doi:10.1016/s0022-3476(70)80368-7

Cited by 27 publications

(14 citation statements)

References 21 publications

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“…Another argument favoring the “aneuploidy dosage” hypothesis is based on the fact that Down's syndrome individuals with distinct levels of trisomic 21 cells vary from normal development (Verresen et al, 1964; Kohn et al, 1970) to mild (Ringman et al, 2008) or severe developmental delay (Richards, 1969). This indicates that frequency and type of aneuploidy might dictate whether a tissue will stay healthy or become diseased.…”

Section: Aneuploidy In Mental Disordersmentioning

confidence: 99%

Implications of aneuploidy for stem cell biology and brain therapeutics

Devalle¹,

Sartore²,

Paulsen³

et al. 2012

Front. Cell. Neurosci.

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Understanding the cellular basis of neurological disorders have advanced at a slow pace, especially due to the extreme invasiveness of brain biopsying and limitations of cell lines and animal models that have been used. Since the derivation of pluripotent stem cells (PSCs), a novel source of cells for regenerative medicine and disease modeling has become available, holding great potential for the neurology field. However, safety for therapy and accurateness for modeling have been a matter of intense debate, considering that genomic instability, including the gain and loss of chromosomes (aneuploidy), has been repeatedly observed in those cells. Despite the fact that recent reports have described some degree of aneuploidy as being normal during neuronal differentiation and present in healthy human brains, this phenomenon is particularly controversial since it has traditionally been associated with cancer and disabling syndromes. It is therefore necessary to appreciate, to which extent, aneuploid pluripotent stem cells are suitable for regenerative medicine and neurological modeling and also the limits that separate constitutive from disease-related aneuploidy. In this review, recent findings regarding chromosomal instability in PSCs and within the brain will be discussed.

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Section: Aneuploidy In Mental Disordersmentioning

confidence: 99%

Implications of aneuploidy for stem cell biology and brain therapeutics

Devalle¹,

Sartore²,

Paulsen³

et al. 2012

Front. Cell. Neurosci.

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“…CHD is the commonest malformation in DS, though it seldom occurs in mosaic DS (2,9). Previous studies examining the relationship between parental origin of chromosome 21 and heart defects, failed to show an association, at least with atrioventricular septal defects (AVSD) (10).…”

Section: Discussionmentioning

confidence: 99%

Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome

2010

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We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespective of parental origin of chromosome 21. Congenital heart defects were more frequent in cases with a maternally derived extra chromosome 21. Imprinted gene(s) may contribute to the development of congenital heart defects in Down syndrome.

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“…(1980) have stressed that mosaicism effects in DS still lack further explanations because, while some individuals may clearly present with a DS phenotype, others may show only a few signs and still others may even have no apparent characteristic signs. Kohn et al . (1970) reported a case study of two adults with DS, one with an IQ of 80 and the other with an IQ of 85, and seven other phenotypically normal adults who had trisomy 21 mosaicism but normal IQ, who were investigated only because they had relatives with unmistakable DS.…”

Section: Discussionmentioning

confidence: 99%

“…1971 ) have suggested that trisomy 21 mosaicism results in a less affected phenotype, including milder intellectual disability. However, investigations done by other researchers ( Johnson & Abelson 1969; Kohn et al . 1970 ) do not give support to this point of view.…”

Section: Introductionmentioning

confidence: 93%

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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Mosaic mongolism. I. Clinical correlations

Cited by 27 publications

References 21 publications

Implications of aneuploidy for stem cell biology and brain therapeutics

Implications of aneuploidy for stem cell biology and brain therapeutics

Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome

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

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