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Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism
Author(s) -
Masri Amira,
Gimelli Stefania,
Hamamy Hanan,
SloanBéna Frédérique
Publication year - 2014
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.36412
Subject(s) - karyotype , proband , biology , agenesis of the corpus callosum , chromosomal translocation , genetics , gene duplication , corpus callosum , chromosome , anatomy , mutation , gene
We describe a 6‐month‐old female with developmental delay, hypotonia, supernumerary nipples, and distinct craniofacial features. Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array‐CGH defined two unbalanced regions with partial 2.3 Mb deletion of 5q35.3 in combination with a large 19.5 Mb duplication of chromosome 10 from q25.3 to q26.3. Parental karyotyping analysis showed that the father was carrier of a balanced t(5;10)(q35;q25). Two cousins of the proband with similar facial features had the same unbalanced karyotype with presence of the der (5) inherited from the malsegregation of the familial translocation. Additionally, three siblings (two deceased and one abortion) manifested a more severe phenotype including congenital heart defect, cleft palate, and agenesis of the corpus callosum and were diagnosed with unbalanced karyotypes inherited from the familial balanced translocation. © 2014 Wiley Periodicals, Inc.