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National Institutes of Health
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A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma
Corpus ID: 207525499
Abstract Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human…
Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies.
American journal of medical genetics
Corpus ID: 28327825
We describe a 1-month-old female infant with balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p) (11q;22p;21q)]. She…
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