Volume 2, Issue 6, November 2016, Pages: 48-51
Received: Sep. 21, 2016;
Accepted: Nov. 30, 2016;
Published: Dec. 27, 2016
Views 3376 Downloads 118
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.
Copyright © 2016 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/
) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Donna M McDonald-McGinn, MS, CGC, Beverly S Emanuel, PhD, and Elaine H Zackai, MD, FAC MG 22q11.2 Deletion Syndrome Gene Reviews 1999 Sep 23.
David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker et al. Consensus Statement: Chromosomal Microarray is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies The American Journal of Human Genetics 2010 86 (749–764).
Shprintzen RJ., Velo-cardio-facial syndrome: 30 Years of study., in Dev Disabil Res Rev., vol. 14, 2008.
Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003) The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 2003, 160 (9): 1580-1586. PMID 12944331.
Horowitz A, Shifman S, Rivlin N, Pisante A, Darvasi A (2005) A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res 2005, 73 (2-3): 263-267. PMID 15653270.
Duband JL, Escot S, Fournier-Thibault C.. SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome. Rare Dis. 2016 Jun 1; 4 (1): e1195050. doi: 10.1080/21675511.2016.1195050. eCollection 2016.
Bollag RJ, Siegfried Z, Cebra-Thomas JA, Garvey N, Davison EM, Silver LM. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genetics. 7 (3) July 1994: 383–9. doi: 10.1038/ng0794-383.
Maria Concetta Cutrupi, Romina Gallizzi, Valeria Ferraù, Caterina Cuppari, Silvana Briuglia, Luciana Rigoli, Carmelo Salpietro Damiano. Rivista di Immunologia e Allergologia Pediatrica. La sindrome di DiGeorge: peculiarità cliniche e genetiche 03/2008. 37-44.
Vernon-Roberts E. Infant death due to congenital abnormalities presenting as a homicide. Am J Forensic Med Pathol. 1993 Sep; 14 (3): 208-11.
Loos E, Verhaert N, Willaert A, Devriendt K, Swillen A, Hermans R, Op de Beeck K, Hens G.. Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome. 2016 SepAm J Med Genet A. 8. doi: 10.1002/ajmg.a.37872.
Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet. 2016 Jul 19. pii: ddw221.