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Article

A Family with an Inverted Tandem Duplication 5q22.1q23.2

6 Oct 2012

Abstract excerpt

Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner. One of the 2 older half-brothers of the index patient was intellectually...

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PMID: 23051634
DOI: 10.1159/000342914

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