An asymptomatic male individual carrying a 5.72 Mb <i>de novo</i> deletion in 8p23.2‑p23.3: A case report-Reference-Cited by-同舟云学术

An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report

Published:2024-04-03 Issue:6 Volume:27 Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Keramida Christina¹,Papoulidis Ioannis¹,Pappa Efterpi¹,Liehr Thomas²,Kalmantis Konstantinos³,Gerede Angeliki⁴,Pavlidou Efterpi⁵,Petersen Michael¹,Manolakos Emmanouil¹

Affiliation:

1. Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece

2. University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany

3. Department of Obstetric and Gynecological Ultrasound, IASO Maternity Hospital, 15123 Athens

4. Department of Obstetrics and Gynecology, Maternal‑Fetal Medicine, Democritus University of Thrace, 69100 Alexandroupolis, Greece

5. Department of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece

Publisher

Spandidos Publications

Reference16 articles.

1. Genomic profile of copy number variants on the short arm of human chromosome 8;Yu;Eur J Hum Genet,2010

2. Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders;Shi;Mol Med Rep,2017

3. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits;Páez;Am J Med Genet A,2008

4. 8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature;Catusi;Genes (Basel),2021

5. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature;de Die-Smulders;Am J Med Genet,1995