Volume 2, Issue 6, November 2016, Pages: 48-51
Received: Sep. 21, 2016;
Accepted: Nov. 30, 2016;
Published: Dec. 27, 2016
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Stefania Erra, Department of Surgical Pathology, Santo Spirito Hospital, Casale Monferrato (Al), Italy
Simona Maria Ricotta, Faculty of Biology, UPO, Alessandria, Italy
Jessica Rotella, Faculty of Biology, UPO, Alessandria, Italy
Malformation syndrome caused by genetic mutation of chromosome 22 was described in 1965 by Angelo DiGeorge, an italo-american doctor. He observed a common clinical picture in a group of children characterized by cardiac malformation, recurrent infection due to absence of thymus and a typical fenotipic aspect of these children. Only in 1992 the chromosomal anomaly was found as a result of studies based on Fluorescence In Situ Hybridation technique (F.I.S.H.). In this report it is described a case of a stillbirth during the second gestational trimester with multiple malformations that are suspected for syndrome of chromosome 22 deletion. The present case is an example of what careful macroscopic and microscopic examinations can be able to identify syndromic defects attributable to chromosome 22 mutations.
Simona Maria Ricotta,
Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy, Biomedical Sciences.
Vol. 2, No. 6,
2016, pp. 48-51.
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