Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

• Main Authors: Chih-Ping Chen (Author), Yau-Kun Kuo (Author), Yi-Ning Su (Author), Schu-Rern Chern (Author), Fuu-Jen Tsai (Author), Pei-Chen Wu (Author), Yu-Ting Chen (Author), Dai-Dyi Town (Author), Wayseen Wang (Author)
• Format: Bog
• Udgivet: Elsevier, 2011-06-01T00:00:00Z.
• Fag: article
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Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). Materials, Methods, and Results: A 32-year-old woman was referred for genetic counseling of prenatally detected isochromosome 18q...