Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy

Stefania Erra; Simona Maria Ricotta; Jessica Rotella

doi:doi:10.11648/j.bs.20160206.11

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Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy

Stefania Erra, Simona Maria Ricotta, Jessica Rotella

Published in Biomedical Sciences (Volume 2, Issue 6)

Received: 21 September 2016 Accepted: 30 November 2016 Published: 27 December 2016

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Abstract

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.

Published in	Biomedical Sciences (Volume 2, Issue 6)
DOI	10.11648/j.bs.20160206.11
Page(s)	48-51
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2016. Published by Science Publishing Group

Keywords

DiGeorge Syndrome, Chromosomal Deletion, Fetal Autopsy

References

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[2]	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).
[3]	Shprintzen RJ., Velo-cardio-facial syndrome: 30 Years of study., in Dev Disabil Res Rev., vol. 14, 2008.
[4]	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.
[5]	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.
[6]	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.
[7]	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.
[8]	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.
[9]	Vernon-Roberts E. Infant death due to congenital abnormalities presenting as a homicide. Am J Forensic Med Pathol. 1993 Sep; 14 (3): 208-11.
[10]	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.
[11]	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.

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APA Style

Stefania Erra, Simona Maria Ricotta, Jessica Rotella. (2016). Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomedical Sciences, 2(6), 48-51. https://doi.org/10.11648/j.bs.20160206.11

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ACS Style

Stefania Erra; Simona Maria Ricotta; Jessica Rotella. Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomed. Sci. 2016, 2(6), 48-51. doi: 10.11648/j.bs.20160206.11

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AMA Style

Stefania Erra, Simona Maria Ricotta, Jessica Rotella. Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomed Sci. 2016;2(6):48-51. doi: 10.11648/j.bs.20160206.11

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@article{10.11648/j.bs.20160206.11,
  author = {Stefania Erra and Simona Maria Ricotta and Jessica Rotella},
  title = {Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy},
  journal = {Biomedical Sciences},
  volume = {2},
  number = {6},
  pages = {48-51},
  doi = {10.11648/j.bs.20160206.11},
  url = {https://doi.org/10.11648/j.bs.20160206.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.bs.20160206.11},
  abstract = {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.},
 year = {2016}
}

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TY  - JOUR
T1  - Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy
AU  - Stefania Erra
AU  - Simona Maria Ricotta
AU  - Jessica Rotella
Y1  - 2016/12/27
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AB  - 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.
VL  - 2
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Author Information

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

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APA Style

Stefania Erra, Simona Maria Ricotta, Jessica Rotella. (2016). Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomedical Sciences, 2(6), 48-51. https://doi.org/10.11648/j.bs.20160206.11

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ACS Style

Stefania Erra; Simona Maria Ricotta; Jessica Rotella. Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomed. Sci. 2016, 2(6), 48-51. doi: 10.11648/j.bs.20160206.11

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AMA Style

Stefania Erra, Simona Maria Ricotta, Jessica Rotella. Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy. Biomed Sci. 2016;2(6):48-51. doi: 10.11648/j.bs.20160206.11

Copy | Download

@article{10.11648/j.bs.20160206.11,
  author = {Stefania Erra and Simona Maria Ricotta and Jessica Rotella},
  title = {Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy},
  journal = {Biomedical Sciences},
  volume = {2},
  number = {6},
  pages = {48-51},
  doi = {10.11648/j.bs.20160206.11},
  url = {https://doi.org/10.11648/j.bs.20160206.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.bs.20160206.11},
  abstract = {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.},
 year = {2016}
}

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TY  - JOUR
T1  - Suspected Syndrome of Chromosome 22 Deletion in a Fetal Autopsy
AU  - Stefania Erra
AU  - Simona Maria Ricotta
AU  - Jessica Rotella
Y1  - 2016/12/27
PY  - 2016
N1  - https://doi.org/10.11648/j.bs.20160206.11
DO  - 10.11648/j.bs.20160206.11
T2  - Biomedical Sciences
JF  - Biomedical Sciences
JO  - Biomedical Sciences
SP  - 48
EP  - 51
PB  - Science Publishing Group
SN  - 2575-3932
UR  - https://doi.org/10.11648/j.bs.20160206.11
AB  - 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.
VL  - 2
IS  - 6
ER  -

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