Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

Two distinct genomic disorders have been linked to Xq28‐gains, namely Xq28‐duplications including MECP2 and Int22h1/Int22h2‐mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28‐gains distal to MECP2 and proximal to the Int22h1/Int22h2...

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Veröffentlicht in:	Clinical genetics 2019-09, Vol.96 (3), p.246-253
Hauptverfasser:	Sinibaldi, Lorenzo, Parisi, Valentina, Lanciotti, Silvia, Fontana, Paolo, Kuechler, Alma, Baujat, Genevieve, Torres, Barbara, Koetting, Judith, Splendiani, Alessandra, Postorivo, Diana, Beygo, Jasmin, Garaci, Francesco G., Malan, Valerie, Lüdecke, Hermann‐Josef, Guida, Valentina, Krumbiegel, Mandy, Lonardo, Fortunato, Novelli, Antonio, Albrecht, Beate, Perria, Chiara, Scarano, Gioacchino, Spielmann, Malte, Nardone, Annamaria M., Battaglia, Agatino, Brancati, Francesco, Bernardini, Laura
Format:	Artikel
Sprache:	eng
Schlagworte:	corpus callosum and cerebellar vermis hypoplasia developmental delay/intellectual disability MeCP2 protein Methyl-CpG binding protein microcephaly Microencephaly Phenotypes Seizures Xq28‐duplication
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