Τίτλος:
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. Results: We report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5th finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb. Discussion: The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation. © 2014 Lagou et al.
Συγγραφείς:
Lagou, M.
Papoulidis, I.
Orru, S.
Papadopoulos, V.
Daskalakis, G.
Kontodiou, M.
Anastasakis, E.
Petersen, M.B.
Kitsos, G.
Thomaidis, L.
Manolakos, E.
Περιοδικό:
Molecular Cytogenetics
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
Article; astigmatism; BCL8 gene; birth weight; case report; central nervous system disease; cesarean section; child; chromosome 13; chromosome 13q; chromosome 22; clinodactyly; conduction deafness; copy number variation; craniofacial malformation; EIF3L gene; external ear disease; face dysmorphia; female; flat nasal bridge; gene; hearing test; human; hypermetropic astigmatism; KDELR3 gene; language delay; microcephaly; micrognathia; nuclear magnetic resonance imaging; physical examination; POTEB gene; pregnancy; premature fetus membrane rupture; preschool child; priority journal; short external auditory canal; speech delay; subarachnoid space dilation; visual system examination
DOI:
10.1186/s13039-014-0092-5
