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

• Hauptverfasser: Chih-Ping Chen (Verfasst von), Yau-Kun Kuo (Verfasst von), Yi-Ning Su (Verfasst von), Schu-Rern Chern (Verfasst von), Fuu-Jen Tsai (Verfasst von), Pei-Chen Wu (Verfasst von), Yu-Ting Chen (Verfasst von), Dai-Dyi Town (Verfasst von), Wayseen Wang (Verfasst von)
• Format: Buch
• Veröffentlicht: Elsevier, 2011-06-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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...