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The National Agricultural Library is one of four national libraries of the United States, with locations in Beltsville, Maryland and Washington, D.C. It houses one of the world's largest and most accessible agricultural information collections and serves as the nexus for a national network of state land-grant and U.S. Department of Agriculture field libraries. In fiscal year 2011 (Oct 2010 through Sept 2011) NAL delivered more than 100 million direct customer service transactions.

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Journal Article

Journal Article

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes  [2013]

Chen, Chih-Ping; Huang, Jian-Pei; Chen, Yi-Yung; Chern, Schu-Rern; et al.

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We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities.
From the journal
Gene
ISSN : 0378-1119

Bibliographic information

Language:
English
Type:
Journal Article
In AGRIS since:
2015
Volume:
527
Issue:
2
Start Page:
636
End Page:
641
Publisher:
Elsevier B.V.
All titles:
"Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes"@eng
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Bibliographic information

Language:
English
Type:
Journal Article
In AGRIS since:
2015
Volume:
527
Issue:
2
Start Page:
636
End Page:
641
Publisher:
Elsevier B.V.
All titles:
"Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes"@eng