A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies.

Co-Repressor Proteins Female Fetus / diagnostic imaging Humans Mosaicism Pregnancy Prenatal Diagnosis / methods Proto-Oncogene Proteins c-bcl-6 Ultrasonography, Prenatal / methods
Congenital anomalies Eye anomalies Genetic disorder Prenatal diagnosis Third trimester

Journal

Fetal diagnosis and therapy
ISSN: 1421-9964
Titre abrégé: Fetal Diagn Ther
Pays: Switzerland
ID NLM: 9107463

Informations de publication

Date de publication:
2022
Historique:
received: 27 01 2022
accepted: 25 03 2022
pubmed: 1 4 2022
medline: 19 5 2022
entrez: 31 3 2022
Statut: ppublish

Résumé

We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.

Identifiants

DOI: 10.1159/000524360 PMID: 35358978
pubmed: 35358978
pii: 000524360
doi: 10.1159/000524360
doi:

Substances chimiques

BCL6 protein, human 0
Co-Repressor Proteins 0
Proto-Oncogene Proteins c-bcl-6 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

114-116

Informations de copyright

© 2022 S. Karger AG, Basel.

Auteurs

Andrés Malinger (A)

Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Michael Brusilov (M)

Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Daphna Mitzad Koresh (D)

Pediatric Ophthalmology Unit, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Mordechai Shohat (M)

Maccabi Genetic Institute and Bioinformatics Unit, Sheba Cancer Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Gustavo Malinger (G)

Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Protéines corépressives › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Structures de l'embryon › Foetus › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Mosaïcisme › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines proto-oncogènes c-bcl-6 › A New BCl6 Transcriptional Corepressor Variant...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Échographie prénatale › A New BCl6 Transcriptional Corepressor Variant...