Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences
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DOI: 10.1159/000485392
Abstract: We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only… read more here.
Keywords: trisomy; duplication; terminal duplication; interstitial telomeric ... See more keywords