Isochromosome-X in Man. Part I

A, de la Chapelle; Wennström, Johan; Hortling, H.; Ch, Ockey

doi:10.1111/j.1601-5223.1966.tb02021.x

Cited by 48 publications

(9 citation statements)

References 24 publications

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“…Several cases of Xqi gonadal dysgenesis have been described as possessing a morphologically similar chromosome with a constant pericentric constric-tion which allowed its identification (de la Chapelle et al 1966, Schmid et al 1974). A large majority of such cases represent 45,X/46,XXqi mosaics.…”

Section: Discussionmentioning

confidence: 99%

Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

Cohen¹,

Rosenmann²,

Hacham‐Zadeh³

et al. 1975

Clinical Genetics

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Section: Discussionmentioning

confidence: 99%

Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

Cohen¹,

Rosenmann²,

Hacham‐Zadeh³

et al. 1975

Clinical Genetics

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“…The occurrence of dicentric chromosomes in humans has been appreciated since the 1960s (De la Chapelle et al 1966; Ockey et al 1966). Many of these dicentrics were associated with birth defects such as Turner Syndrome and Down Syndrome and with reproductive abnormalities.…”

Section: Dicentrics In Humansmentioning

confidence: 99%

Dicentric chromosomes: unique models to study centromere function and inactivation

2012

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Dicentric chromosomes are products of genome rearrangement that place two centromeres on the same chromosome. Depending on the organism, dicentric stability varies after formation. In humans, dicentrics occur naturally in a substantial portion of the population and usually segregate successfully in mitosis and meiosis. Their stability has been attributed to inactivation of one of the two centromeres, creating a functionally monocentric chromosome that can segregate normally during cell division. The molecular basis for centromere inactivation is not well under-stood, although studies in model organisms and in humans suggest that genomic and epigenetic mechanisms can be involved. Furthermore, constitutional dicentric chromosomes ascertained in patients presumably represent the most stable chromosomes, so the spectrum of dicentric fates, if it exists, is not entirely clear. Studies of engineered or induced dicentrics in budding yeast and plants have provided significant insight into the fate of dicentric chromosomes. And, more recently, studies have shown that dicentrics in humans can also undergo multiple fates after formation. Here, we discuss current experimental evidence from various organisms that has deepened our understanding of dicentric behavior and the intriguingly complex process of centromere inactivation.

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“…A comparison between the labelling behaviour of the isochromosome-X's described in the previous paper (DE LA CHAPELLE et al, 1965) has been made at several stages of the DNA synthesis period. The type without the constriction behaves in DNA synthesis in the same way as the long arm of the normal late labelling X.…”

Section: Discussionmentioning

confidence: 99%

“…6 a , b) was different from that of the case 3 and 4 type. At El, the proximal region which includes the constricted segment already described (DE LA CHAPELLE et al, 1965) is again relatively unlabelled compared to the terminal and mid-segments. The latter two regions now show a more equal labelling.…”

Section: Isochromosome-x Pattern Case 1 Andmentioning

confidence: 99%