Author:
Khalifa Yousif,Hassan Hisham Y.,Weise Anja,Liehr Thomas,Alkhayyat Haya
Abstract
Abstract
Background
Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confusing, and represents a challenge for pediatricians, in terms of finding the correct diagnoses.
Case presentation
In a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microdeletion and micro duplication in 22q13 was diagnosed by banding cytogenetics, and further characterized in detail by molecular cytogenetic and chromosomal microarray.
Conclusion
Here a rare PHMDS case caused by a r(22) is presented. Less than 10 comparable cases are reported in the literature. The present case highlights the importance of conducting genetic counseling and appropriate genetic tests for newborns with mild dysmorphic features.
Funder
Friedrich-Schiller-Universität Jena
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Reference30 articles.
1. Stoll C, Roth MP. Segregation of a 22 ring chromosome in three generations. Hum Genet. 1983;63(3):294–6.
2. Teyssier M, Moreau N. Familial transmission of deleted chromosome 22 [r(22)p0?] in two normal women. Ann Genet. 1985;28(2):116–8.
3. Crusi A, Engel E. Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo. Ann Genet. 1986;29(4):253–60.
4. Wenger SL, Boone LY, Cummins JH, Del Vecchio MA, Bay CA, Hummel M, et al. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s. Am J Med Genet. 2000;91(5):351–4.
5. Sovner R, Stone A, Fox C. Ring chromosome 22 and mood disorders. J Intellect Disabil Res. 1996;40(Pt 1):82–6.
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献