Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Cohen, Maimon M.; Lin, Chyi-Chyang; Sybert, Virginia P.; Orecchio, E J

doi:10.1097/00006254-197303000-00015

Cited by 13 publications

(18 citation statements)

References 22 publications

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“…Although in the former the distance from the hypothet ical inactivation center is longer than that in the latter, we find spreading in the former but not in the latter. This could support another hypothesis (Cohen et al, 1972) of a second inactivation center on the proximal part of the short arm which was possibly damaged or deleted in our t(X;17).…”

Section: Spreading Of Inactivationsupporting

confidence: 85%

Replication pattern of the X chromosomes in three X/autosomal translocations

Hagemeijer¹,

Hoovers²,

Smit³

et al. 1977

Cytogenet Genome Res

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Three X/autosomal translocations, two familial and one de novo, were analyzed. Late-replicating chromosomes and chromosome regions were studied with R-banding techniques after BrdU incorporation. The first translocation, t(X;4)(q21;ql3), was a de novo translocation, found in a woman with amenorrhea. The structurally normal X was late replicating in all cells. The second translocation, t(X;6)(p21;q26), was found in an unbalanced form, 46, XX, der(6), in a phenotypically abnormal girl; her mother carried the balanced translocation. In the mother’s blood culture inactivation of the X’s followed two modes: In 85 % of the cells the normal X was late replicating, and in the remaining 15 % the der(X) was inactivated, including the attached fragment of chromosome 6. The third translocation, t(X;17)(pll;q24), was found in three generations. In the phenotypically normal mother, who carried the balanced translocation, the late-replicating X was always the normal X. In her daughters, who had an unbalanced karyotype, 46, X, der(X), and multiple congenital abnormalities, the X part of the translocation chromosome was always late replicating. No spreading of inactivation over the attached autosomal region was observed, resulting for these patients in a partial trisomy of 17q. Their peculiar phenotype is described.

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Section: Spreading Of Inactivationsupporting

confidence: 85%

Replication pattern of the X chromosomes in three X/autosomal translocations

Hagemeijer¹,

Hoovers²,

Smit³

et al. 1977

Cytogenet Genome Res

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“…This spreading effect is well established in mouse X/A translocations, and failure of inactivation may have an analogous relation to the size of the translocated segment or the distance from such an inactivating center, resulting in inactivation failure over the entire autosomal segment. This might be considered in several instances cited above where failure of inactivation occurred in large segments of autosome positioned distally in either Xp or Xq arms [8,[12][13][14][15]. The explanation is probably more complex than this since both cases reported by Hajemeijer et al [16] and the case reported here represent small segments of autosome which have been translocated distally on the Xp arm.…”

Section: Discussionmentioning

confidence: 80%

Failure of X Inactivation in the Autosomal Segment of an X/A Translocation

Palmer

Hubbard

Henry

et al. 1980

Obstetrical & Gynecological Survey

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SUMMARYA newborn with an X/A translocation (46,X,der X,t(X; 17)(1 7pter-*-l7pl3::Xp22->Xqter) demonstrated multiple anomalies. X-replication studies in leukocytes of the patient with RBG (R Bands by BrdU using Giemsa stain) showed the abnormal X, t(X; 17), to be late replicating except for the translocated segment. Clinical findings and replication studies suggest failure of inactivation of the translocated segment.

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“…The parents' karyotypes were normal. Table 1 presents clinical features of the female carrier of an X;autosome translocation: the subject of the present study, and of 2 previously documented cases (Cohen et al 1972;Turleau et al 1989;MacDermot and Hult6n 1990), who were also sufferers from X-linked E D A . All 3 studied cases display some common symptoms: negligible eyebrows and eyelashes, an absence of body hair, dental anomalies (of varying degrees), and dry skin.…”

Section: Cytogenetic Investigationsmentioning

confidence: 99%

“…Being an X-linked Mendelian disorder, EDA predominantly afflicts males. However, 2 females with a full-blown EDA phenotype have previously been diagnosed (Cohen et al 1972;Turleau et al 1989). These cases have attracted exceptional interest because they showed X;autosome translocations involving the same region on the X chromosome, but different autosomes.…”

Section: Introductionmentioning

confidence: 99%