A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q) |
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| Authors: | L Hornstein S Soukup |
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| Institution: | University Affiliated Cincinnati Center for Developmental Disorders and the University of Cincinnati Department of Pediatrics, and Mental Retardation Research Center, Institute for Developmental Research, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, U. S. A |
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| Abstract: | A case of partial duplication 13q14 → qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qter;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally. |
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| Keywords: | Chromosome abnormalities familial translocation genetic counseling trigonocephaly |
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