An analysis of Xq deletions |
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Authors: | Paola Maraschio Rossella Tupler Laura Barbierato Eleonora Dainotti Daniela Larizza Franca Bernardi Heidi Hoeller Angiolina Garau Luciano Tiepolo |
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Affiliation: | (1) Biologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I-27100 Pavia, Italy;(2) Clinica Pediatrica, Università di Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy;(3) Laboratorio di Genetica, Policlinico Borgo Roma, Verona, Italy;(4) Anatomia Patologica, Ospedale Regionale, Bolzano, Italy;(5) Istituto Clinica Pediatrica, Università di Cagliari, Italy |
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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 revealed 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 Xg24. A low birthweight is present whenever the breakpoint is at q22 or more proximal. |
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