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6q27 subtelomeric deletions: Is there a specific phenotype?
Author(s) -
Rigon Chiara,
Salviati Leonardo,
Mandarano Romina,
Donà Marta,
Clementi Maurizio
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33877
Subject(s) - medical genetics , medicine , pediatrics , unit (ring theory) , genetics , biology , psychology , gene , mathematics education
We read with great interest the report of Mosca et al. [2010] in theMay issue of the Journal, describing a patient with a 5.65Mbdeletion on chromosome 6q27 (ranging from 165.24Mb to the6q telomere at 170.89 Mb)associated with intellectual disability and a Ehlers–Danlos (EDS) like phenotype. We would like to further delineate the phenotypic spectrum of these rearrangements by reporting two additional patients with this chromosomal abnormality.Patient 1 is a 17-year-old girl, with a history of moderatepsychomotor retardation, hypotonia and a sacral lipoma, that was surgically removed at age 5. She had mild dysmorphic features (downslanting, narrow palpebral fissures, a broad nasal root, malar hypoplasia, prominent ears, and thin vermillion of the upper lip). Brain MRI performed at age 16 as part of the investigations for the intellectual disability, showed an atypical cerebellar cyst, and evidence of periventricular nodular heterotopia. She has never had seizures