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Defect-diaphragmatic ratio: a new parameter for assessment of defect size in neonates with congenital diaphragmatic hernia

✍ Scribed by M. Rygl, P. Kuklova, D. Zemkova, K. Slaby, K. Pycha, Z. Stranak, J. Melichar, J. Snajdauf


Book ID
118783397
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
342 KB
Volume
28
Category
Article
ISSN
0179-0358

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A maternally inherited chromosome 18q22.
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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