Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities

Molecular Cytogenetics

Shibo Li¹  Jin Lu¹  Xianglan Lu¹  Xianfu Wang¹  Carrie Guy¹ 

[1] University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City 73104, OK, USA

关键词: Duplication;    Deletion;    Chromosome 22q11;    Array CGH;    Microarray;    Central nervous system abnormalities;    Chiari I malformation;    Semilobar holoprosencephaly;   

Others  :  1235199
DOI  :  10.1186/s13039-015-0200-1

 received in 2015-06-01, accepted in 2015-12-09,  发布年份 2015

【 摘 要 】

Background

Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.

Case presentation

We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.

Conclusions

This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

【 授权许可】

   
2015 Guy et al.

【 图 表 】

Fig. 1.

Fig. 2.

【 参考文献 】

• [1]Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000; 9:2421-6.
• [2]McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. 2013.
• [3]Williams NM. Molecular mechanisms in 22q11 deletion syndrome. Schizophr Bull. 2011; 37:882-9.
• [4]Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999; 56:940-5.
• [5]Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A et al.. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet. 2001; 102:1-10.
• [6]Hall RK, Bankier A, Aldred MJ, Kan K, Lucas JO, Perks AG. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997; 84:651-62.
• [7]Yang H-C, Shyur S-D, Huang L-H, Chang Y-C, Wen D-C, Liang P-H et al.. DiGeorge syndrome associated with solitary median maxillary central incisor. Asian Pac J Allergy Immunol. 2005; 23:159-63.
• [8]Noël A-C, Pelluard F, Delezoide A-L, Devisme L, Loeuillet L, Leroy B et al.. Fetal phenotype associated with the 22q11 deletion. Am J Med Genet A. 2014; 164A:2724-31.
• [9]Firth HV. 22q11.2 duplication. 2013.
• [10]Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J et al.. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008; 10:267-77.
• [11]Hultman CS, Riski JE, Cohen SR, Burstein FD, Boydston WR, Hudgins RJ et al.. Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. Plast Reconstr Surg. 2000; 106:16-24.
• [12]Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N et al.. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999; 8:1157-67.
• [13]Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R et al.. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997; 61:620-9.
• [14]McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008; 14:69-74.
• [15]Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S et al.. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003; 362:1366-73.
• [16]Shaikh TH, Kurahashi H, Saitta SC, O’Hare AM, Hu P, Roe BA et al.. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000; 9:489-501.
• [17]Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M et al.. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013; 92:439-47.
• [18]Shaikh TH, O’Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M et al.. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007; 17:482-91.
• [19]Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM et al.. The human genome browser at UCSC. Genome Res. 2002; 12:996-1006.