Recombinant chromosome as a result of pericentric inversion of X chromosome

Nikoliš, Jovanka; Stolević, E

doi:10.1007/bf00286953

Cited by 27 publications

(10 citation statements)

References 7 publications

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“…X breakpoints and gonadal development in 31 carriers of balanced X inversions; literature in the Appendix, numbers[89][90][91][92][93][94][95][96][97][98][99][100][101][102][103][104][105] …”

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confidence: 99%

The critical region on the human Xq

1990

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Adult female carriers of balanced X; autosome translocations (118 cases) and of balanced X inversions (31 cases) have been collected from the literature. Forty-five of the 118 translocation carriers in whom the break was in the critical region (Xq13-q22, Xq22-q26, separated by a narrow region within Xq22) showed gonadal dysgenesis. Seven of the 31 inversion carriers in whom the break was in the same region also had gonadal dysgenesis, whereas the remaining 24 were normal in this respect. The critical region consists mainly of Q-bright material, and is the fifth brightest segment in the human genome. The region contains relatively few genes. It is possible that meiotic crossing-over, rarely, if ever, takes place in it. The critical region may therefore consist of two "supergenes" whose integrity must be maintained to allow normal ovarian development. The effect exerted by this region differs from other known position effects, in that it is independent of the breakpoint within the region and of the chromosome bands to which the broken ends are attached. One possible mechanism causing this effect might be a change in the replication order of the chromosome bands, which, in turn, might affect their function.

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confidence: 99%

The critical region on the human Xq

1990

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“…The search for the critical region on the long-arm of the X chromosome that causes POF is still ongoing. Recombinant X chromosomes with Xp duplication and Xq deletion in POF are rare and have been reported in only four cases to date [1][2][3][4] . The youngest was 18 years old.…”

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A Case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-Year-Old Girl with Premature Ovarian Failure

Merhi

Roberts²,

Awonuga³

2006

Gynecol Obstet Invest

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Premature ovarian failure due to Xp duplication and Xq deletion has been reported in four patients, the youngest of whom was 18 years old. The diagnosis has been made with new techniques for genetic analysis, such as comparative genomic hybridization and fluorescence in situ hybridization. We report the youngest case (a 12-year-old who presented with irregular menses), of premature ovarian failure due to Xp duplication and Xq deletion and the first with 46,X,der(X)t(X;X)(q22.1;p11). The diagnosis was made using C-banding and fluorescent in situ hybridization with locus-specific probes. This case highlights the need to use advanced genetic strategies to determine karyotypic and phenotypic abnormalities.

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“…Two fertile cases with pericentric inversions [NikoliS and StoleviC, 1978;Soler et al, 19781 involving Xq24 and Xq22 have been reported. Interstitial deletions of Xq within the critical region are also not inevitably associated with gonadal dysfunction since two such patients were reported to have viable offspring [de la Chapelle et al, 1975;Tabor et al, 19831.…”

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confidence: 95%

X;14 translocation: An exception to the critical region hypothesis on the human X‐chromosome

1985

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We report on a family in which an X;14 translocation has been identified. A phenotypically normal female, carrier of an apparently balanced X-autosome translocation t(X;14)(q22;q24.3) in all her cells and a small interstitial deletion of band 15q112 in some of her cells had 2 offspring. She represents a fifth case of balanced X-autosome translocation with the break point inside the postulated critical region of Xq(q13 q26) associated with fertility. The break point in this case is located in Xq22, the same band as in four previously published exceptional cases. In most of her cells, the normal X was inactivated. Her daughter, the proposita, has an unbalanced karyotype 46,X,der(X), t(X;14)(q22;q24.3)mat, del(15)(q11.1q11.3)mat. She is mildly retarded and has some Prader-Willi syndrome manifestations. She has two normal 14 chromosomes, der(X), and deletion 15q11.2. Her clinical abnormalities probably could be attributed to the deletions 15q and Xq rather than 14q duplication. In most of cells, der(X) was inactivated. We assume that spreading of inactivation was extended to the 14q segment on the derivative X. Late replication and gene dose studies support this view. Another daughter, who inherited the balanced X;14 translocation and not deletion 15 chromosome, is phenotypically normal.

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Recombinant chromosome as a result of pericentric inversion of X chromosome

Cited by 27 publications

References 7 publications

The critical region on the human Xq

The critical region on the human Xq

A Case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-Year-Old Girl with Premature Ovarian Failure

X;14 translocation: An exception to the critical region hypothesis on the human X‐chromosome

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