Τίτλος:
A girl with 10 Mb distal Xp deletion arising from maternal pericentric inversion: Clinical data and molecular characterization
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chromosome inactivation phenomenon. Case report: A female patient with a 10Mb distal Xp deletion and an Xq duplication, showing mild intellectual disability, is described in this report. While the deletion arose from a maternal pericentric inversion, the duplication was directly transmitted from the mother who is phenotypically normal. Conclusion: This report underlines the usefulness of molecular cytogenetic technics in postnatal diagnosis. © 2018 Bentham Science Publishers.
Συγγραφείς:
Papoulidis, I.
Vetro, A.
Paspaliaris, V.
Ziegler, M.
Kreskowski, K.
Daskalakis, G.
Papadopoulos, V.
Dagklis, T.
Liehr, T.
Thomaidis, L.
Manolakos, E.
Περιοδικό:
Current Genomics
Εκδότης:
Bentham Science Publishers B.V.
Λέξεις-κλειδιά:
Article; behavior disorder; case report; chromosome deletion; chromosome duplication; clinical article; comparative genomic hybridization; cytogenetics; DNA microarray; face dysmorphia; female; fluorescence in situ hybridization; genetic counseling; human; intellectual impairment; karyotype; language development; metaphase chromosome; muscle hypotonia; neurologic examination; newborn; penetrance; pericentric chromosome inversion; phenotype; speech delay
DOI:
10.2174/1389202918666170725102220
