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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

✍ Scribed by Chih-Ping Chen; Yau-Kun Kuo; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang

Book ID
116920696
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
809 KB
Volume
50
Category
Article
ISSN
1028-4559

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## Abstract Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit