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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

✍ Scribed by Heidi A. Heilstedt; Blake C. Ballif; Leslie A. Howard; Richard A. Lewis; Samuel Stal; Catherine D. Kashork; Carlos A. Bacino; Stuart K. Shapira; Lisa G. Shaffer

Book ID
117854220
Publisher
American Society of Human Genetics
Year
2003
Tongue
English
Weight
862 KB
Volume
72
Category
Article
ISSN
0002-9297

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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
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## Abstract Monosomy 1p36 is the most common terminal deletion syndrome seen in humans, occurring in ∼1 in 5,000 live births. Common features include mental retardation, characteristic dysmorphic features, hypotonia, seizures, hearing loss, heart defects, cardiomyopathy, and behavior abnormalities.