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Article

Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.

American journal of medical genetics. Part A - 1 Aug 2023

Sirera Sirera Paula, García-Payá Elena, Olivas García Julia, Jadraque Rodríguez Rocío, Hernández Romero Sofía Daniela

Abstract excerpt

Kagami-Ogata syndrome and Temple syndrome are imprinting disorders caused by the abnormal expression of genes in an imprinted cluster on chromosome 14q32. Here, we report a female with mild features of the Kagami-Ogata syndrome phenotype with polyhydramnios, neonatal hypotonia, feeding difficulties, abnormal foot morphology, patent foramen ovale, distal arthrogryposis, normal facial profile, and a bell-shaped...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37222159
DOI: 10.1002/ajmg.a.63251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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