Microdeletion syndromes
National Institutes of Health
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Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2…
To retrospectively evaluate the successful test rate and performance of non-invasive prenatal screening (NIPS) for aneuploidies…
Many new microdeletion syndromes have been characterized in the past decade, including 2p15‐p16.1 microdeletion syndrome. More…
© 2018 GSF Patient Library | 1 There are many different kinds of genetic conditions. Some are caused by whole extra or missing…
To the Editor: Drs. Vora and O’Brien indicate that noninvasive prenatal testing for chromosomal microdeletions has not been…
Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic
The phenotype of 15q13.3 microdeletion is variable and can be non‐penetrant. Recently, “second‐hit hypothesis” has been proposed…
The field of human cytogenetics has undergone multiple revolutions in its relatively short lifespan. The use of human chromosome…
Chromosome deletion and microdeletion syndromes account for an increasing number of clinically recognizable genetic conditions…
Contiguous gene syndromes are characterized by deletions or duplications of specific chromosomal segments involving clusters of…