Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.
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DOI: 10.1016/j.ejmg.2018.07.018
Abstract: Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no… read more here.
Keywords: uniparental disomy; deletion; 11q23 qter; two siblings ... See more keywords