A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
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ABSTRACT:
SUBMITTER: Mandrile G
PROVIDER: S-EPMC4259072 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
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A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
Mandrile Giorgia G Di Gregorio Eleonora E Calcia Alessandro A Brussino Alessandro A Grosso Enrico E Grosso Enrico E Savin Elisa E Giachino Daniela Francesca DF Brusco Alfredo A
Case reports in genetics 20141123
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3-3.4 Mb and overlapping 13q12.3 critical region. Clinical featu ...[more]
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