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Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.

Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced translocation. However, the frequency of carriers for...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Jasen L Wise, Richard J Crout, Daniel W McNeil, Robert J Weyant, Mary L Marazita, Sharon L Wenger
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science (PLoS) 2009-06-01
Σειρά:PLoS ONE
Διαθέσιμο Online:http://europepmc.org/articles/PMC2688762?pdf=render
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