X long arm deletion with oligomenorrhoea.

Mijin, K; Stolević, E; Adzić, S; Laća, Z; S, Marković

doi:10.1136/jmg.19.4.305

Cited by 8 publications

(1 citation statement)

References 9 publications

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“…The mean height of UTS patients with a 45,X karyotype is 142.9 cm [Lyon et al, 19851 which exactly corresponds to 3 SD below the mean of the Caucasian population. Thus, by this definition about 50% of the UTS patients do not have short stature which is in conflict with the general Srivastava et al, 1979Seki et al, 1981Brankovic et al, 1979Wyss et al, 1982Dewhurst et al, 1981Simpson and Lebeau, 1981Dewhurst et al, 1981Ruthner et al, 1979Mijin et al, 1982Teyssier et al, 1992 De la Chapelle et al, 1975Kaiser et al, 1984Naguib et al, 1988Naguib et al, 1988Naguib et al, 1988Veneman et al, 1991Veneman et al, 1991Fryns et al, 1982Fitch et al, 1982Fitch et al, 1982Fitch et al, 1982Trunca ...…”

Section: Patients and Their Classificationmentioning

confidence: 86%

Deletions of Xq and growth deficit: A review

1994

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A critical review of the literature disclosed 44 cases with a 46,X,Xq- karyotype without apparent mosaicism. Of these, 17 were of normal height (compared to the respective population), 11 had a height of over 1 SD below the mean, and 16 had a height of over 2 SD below the mean with breakpoints between Xq13 and Xq25. Since patients of normal height occurred with breakpoints as proximal as Xq13 we conclude that there is no major "growth gene" on Xq distal to q13. The most likely explanation for the variable phenotypic effect of Xq- is to assume that growth gene(s) in Xp or proximal Xq are inactivated on such a chromosome with some variability similar to the variable spreading of X inactivation seen in some X-autosome translocations.

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Section: Patients and Their Classificationmentioning

confidence: 86%

Deletions of Xq and growth deficit: A review

1994

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Phenotypic-Karyotypic Correlations of Gonadal Determinants: Current Status and Relationship to Molecular Studies

Simpson¹

1987

Human Genetics

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The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

Therman

Susman

1990

Hum Genet

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We have collected from the literature adult nonmosaic women with the following aberrant X chromosomes: Xp- (52), Xq- (67), idic(Xp-)(10), idic(Xq-)(9), and interstitial deletions (12). Lack of Xp, and especially Xcen-Xp11 (b region), may cause full-blown Turner syndrome. However, individual Turner symptoms, including gonadal dysgenesis, otherwise seem to be randomly distributed with respect to the different Xp and Xq deletions, although breakpoints distal to Xq25 do not give rise to any phenotypic anomalies except in a few cases of secondary amenorrhea or premature menopause. Of the carriers of an Xp- or Xq- chromosome, 65% and 93%, respectively, suffer from ovarian dysgenesis, whereas all idic(Xp-) and idic(Xq-) chromosomes cause primary or secondary amenorrhea. Xq deletions do not induce specific symptoms different from those caused by Xp deletions. Lack of the tip of Xp has led in 46/52 cases to short stature, but 43% of the Xq- carriers are also short. To explain these observations, we propose the following hypothesis. Since deletions of truly inactivated regions do not seem to cause any symptoms, we assume that the b region (Xcen-p11) always stays active in a normal inactive X, but is inactivated in deleted X chromosomes, especially in Xq- chromosomes. In some cases, inactivation may spread to the tip of Xp; this would explain the apparently variable behavior of the Xg and STS genes, and the short stature of some Xq- carriers. Full chromosome pairing seems to be a prerequisite for the viability of oocytes and thus for gonadal development. Deleted X chromosomes necessarily leave a portion of the normal X unpaired and isodicentrics probably interfere with pairing, resulting in atresia of oocytes. The role played by the "critical region" (Xq13-q24) in ovarian development is still unclear.

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X long arm deletion with oligomenorrhoea.

Abstract: ReferencesBoue J, Taillemite JL, Hazael-Massieux P, Leonard C, Boue A. Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families.

Cited by 8 publications

References 9 publications

Deletions of Xq and growth deficit: A review

Deletions of Xq and growth deficit: A review

Phenotypic-Karyotypic Correlations of Gonadal Determinants: Current Status and Relationship to Molecular Studies

The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

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