Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

In a 24-year-old man with mild intellectual disability, congenital heart defects and obesity, we identified up to 4 small supernumerary marker chromosomes (sSMCs) in blood metaphases. The ring-shaped sSMCs were derived from chromosomes 11, 12 and X as well as a fourth, unidentified chromosome. In in...

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Veröffentlicht in:	Molecular syndromology 2013, Vol.3 (6), p.274-283
Hauptverfasser:	Hochstenbach, R., van Gijn, M.E., Krijtenburg, P.-J., Raemakers, R., van ’t Slot, R., Renkens, I., Eleveld, M.J., van der Smagt, J.J., Poot, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Original Original Article
Online-Zugang:	Volltext
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