We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.

An analysis of Xq deletions / P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 97:(1996), pp. 375-381.

An analysis of Xq deletions

TUPLER, Rossella;
1996

Abstract

We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.
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375
381
An analysis of Xq deletions / P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 97:(1996), pp. 375-381.
P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/459459
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