We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.
Piro E., Serra G., Giuffre M., Schierz I.A.M., Corsello G. (2021). 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype. CLINICAL CASE REPORTS, 9(6), 1-5 [10.1002/ccr3.4289].
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
Piro E.;Serra G.;Giuffre M.;Schierz I. A. M.;Corsello G.
2021-01-01
Abstract
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.
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