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Article

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC medical genomics - 29 Aug 2024

Yang Xueting, Li Mengmeng, Qi Qingwei, Zhou Xiya, Hao Na, Lü Yan, Jiang Yulin

Abstract excerpt

BACKGROUND: Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal genes in the chromosome 14q32 region, respectively. We present a rare prenatally diagnosed case of recurrent KOS inherited from a mother affected by TS. CASE PRESENTATION: The woman's two affected pregnancies exhibited recurrent manifestations of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39210340
DOI: 10.1186/s12920-024-01987-4
PMCID: PMC11360317

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