A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

Background Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (

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Veröffentlicht in:	Birth defects research. A Clinical and molecular teratology 2016-09, Vol.106 (9), p.793-797
Hauptverfasser:	Goumy, Carole, Gay-Bellile, Mathilde, Salaun, Gaelle, Kemeny, Stephan, Eymard-Pierre, Eleonore, Biard, Marie, Pebrel-Richard, Celine, Vanlieferinghen, Philippe, Francannet, Christine, Tchirkov, Andrei, Laurichesse, Helene, Rouzade, Charles, Gouas, Laetitia, Vago, Philippe
Format:	Artikel
Sprache:	eng
Schlagworte:	2q14 deletion Adult agenesis of corpus callosum Agenesis of Corpus Callosum - genetics Chromosome Deletion Chromosomes, Human, Pair 2 - genetics Female Fetal Growth Retardation - genetics GLI2 Humans intrauterine growth retardation Kruppel-Like Transcription Factors - genetics Nuclear Proteins - genetics Pregnancy RNA, Small Nuclear - genetics RNU4ATAC RNU4ATAC, GLI2 Zinc Finger Protein Gli2
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Beschreibung
Zusammenfassung:	Background Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (
ISSN:	1542-0752 1542-0760
DOI:	10.1002/bdra.23535