1978
DOI: 10.1007/bf00278844
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Ring 10 chromosome: 46,XX,r10(p15q26)

Abstract: A teenage girl with mild retardation and some clinical features suggestive of the Turner syndrome was found to have an r10(p15q26) in blood and skin cells. Quantitative evaluation of 28 red cell enzymes, including two (hexokinase and glutamic-oxalocetic transaminase) known to be on chromosome 10, gave normal values.

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Cited by 28 publications
(17 citation statements)
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“…In an earlier paper, we touched upon an interesting finding of an aggressive follicular thyroid carcinoma in a young girl with a constitutional ring chromosome, most likely lacking genetic material at the distal part of chromosome lOq (Sparkes et al 1978;Tommerup and Lothe 1992). In the present study, more than one-third of the tumors showed LOH at chromosome lOq (Fig 1).…”
Section: Discussionsupporting
confidence: 51%
“…In an earlier paper, we touched upon an interesting finding of an aggressive follicular thyroid carcinoma in a young girl with a constitutional ring chromosome, most likely lacking genetic material at the distal part of chromosome lOq (Sparkes et al 1978;Tommerup and Lothe 1992). In the present study, more than one-third of the tumors showed LOH at chromosome lOq (Fig 1).…”
Section: Discussionsupporting
confidence: 51%
“…Four cases of ring chromosome 10 [present case; Simoni et al, 1979;Sparkes et al, 1978;Tsukino et al, 19801 had breakpoints assigned at p15;q26. The degree of mosaicism was quite similar, and 46 chromosomes were found in 84-96% of cells in these four patients ( Table I).…”
Section: Discuss1 Onmentioning
confidence: 95%
“…Ring chromosome 10 has been reported previously in five patients whose chromosomes were studied using banding methods [Fryns et al, 1978;Lansky et al, 1977;Simoni et al, 1979;Sparkes et al, 1978;Tsukino et al, 19801. Four of these patients had a ring 10 chromosome as their only abnormality, but one also had a t(lOq;l9p) [Fryns et al, 19781.…”
Section: Introductionmentioning
confidence: 95%
“…Only nine patients with a ring chromosome 10 have so far been reported (Lansky et al, 1977;Fryns et al, 1978;Sparkes et al, 1978;Simoni et al, 1979;Tsukino et al, 1980;Michels et al, 1981, Serville et al, 1982Nakai et al, 1983;Kondo et al, 1984). In this report, we present a patient with a mosaic karyotype of 45,XY, -10/46,XY/46,XY,r(10) (pl 5.3@6.3) who showed relatively mild phenotypic anomalies.…”
Section: Introductionmentioning
confidence: 67%