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Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion
Author(s) -
Ramos Maria,
Wilkens Alisha,
Krantz Ian D.,
Wu Yaning
Publication year - 2016
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31496
Subject(s) - hypotonia , craniofacial , phenotype , genitourinary system , intellectual disability , ventricle , coloboma , craniofacial abnormality , medicine , heart defect , hearing loss , biology , genetics , anatomy , audiology , heart disease , gene
Distal deletion of the long arm of chromosome 10 with breakpoints mapped at 10q26 is a well‐recognized contiguous genomic disorder. A wide spectrum of clinical findings is seen in affected individuals and the common clinical features include craniofacial dysmorphia, developmental delay, intellectual disability, hypotonia, cardiovascular defects, and urogenital malformations. We report herein on a male patient with a 5.5 Mb interstitial deletion of 10q26.11q2613 and compare his clinical presentation to previously reported cases. Apart from characteristic phenotypes seen in 10q26 deletion syndrome, he presents with colobomas and left ventricle enlargement. These are cardiovascular and ophthalmological findings that have not been described in prior cases. © 2016 Wiley Periodicals, Inc.