Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case

FAN Mei-Rong; WANG Gui-Jie; YU Xin-You

doi:10.7499/j.issn.1008-8830.2018.06.011

PDF(1645 KB)

Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (6) : 485-489. DOI: 10.7499/j.issn.1008-8830.2018.06.011

CLINICAL RESEARCH

Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case

FAN Mei-Rong¹, WANG Gui-Jie¹, YU Xin-You^1,2

Author information +

History +

Abstract

A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic hybridization showed an 87.5 Mb duplication in 13q11q33.2 region and an 8.2 Mb deletion in 13q33.2q34 region. Fluorescence in situ hybridization showed terminal depletion of the long arm of the ring chromosome 13. The girl was diagnosed with ring 13 syndrome. This syndrome has various clinical phenotypes and is closely associated with the amount and site of the loss of genetic material in chromosomal band and different rates of chimerism.

Key words

Chromosomal abnormality / Ring chromosome 13 / Genital abnormality / Child

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

FAN Mei-Rong, WANG Gui-Jie, YU Xin-You. Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(6): 485-489 https://doi.org/10.7499/j.issn.1008-8830.2018.06.011

References

[1] Pace NP, Maggouta F, Twigden M, et al. Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome[J]. Mol Cytogenet, 2017, 10:9.
[2] Rossi E, Riegel M, Messa J, et al. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes:clues to the mechanisms of formation[J]. J Med Genet, 2008, 45(3):147-154.
[3] Bedoyan JK, Flore LA, Alkatib A, et al. Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype[J]. Am J Med Genet, 2004, 129A(3):316-320.
[4] 李静, 李亚梅, 陈雪, 等. 一例嵌合型环状13号染色体病例报道和文献回顾[J]. 中国优生与遗传杂志, 2017, 25(8):76-77.
[5] Özsu E, Yeşiltepe Mutlu G, Ipekçi B. Ring chromosome 13 and ambiguous genitalia[J]. J Clin Res Pediatr Endocrinol, 2014, 6(2):122-124.
[6] Su PH, Chen CP, Su YN, et al. Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13[J]. Genet Mol Res, 2013, 12(2):1311-1317.
[7] Rodrigues MA, Moreira RV, Ribeiro PD. Case report of ring chromosome 13:46,XX,r(13)(p13q34)/46,XX,dic r(13;13)(p13q34;p13q34)[J]. Brit J Med Med Res, 2015, 5(1):123-128.
[8] Liao C, Fu F, Zhang L. Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome:a case report[J]. J Med Case Rep, 2011, 5:99.
[9] Chen CP, Tsai CH, Chern SR, et al. Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13[J]. Gene, 2013, 529:163-168.
[10] Uwineza A, Pierquin G, Gaillez S, et al. Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13[J]. Genet Couns, 2013, 24(2):193-200.
[11] Sodré CP, Guilherme RS, Meloni VF, et al. Ring chromosome instability evaluation in six patients with autosomal rings[J]. Genet Mol Res, 2010, 9(1):134-143.
[12] Kosztolányi G. The Genetics and clinical characteristics of constitutional ring chromosomes[J]. J Assoc Genet Technol, 2009, 35(2):444-448.
[13] 赵鼎, 杨俊梅, 宋银森. 13号染色体长臂部分缺失综合征一例报告[J]. 中国优生与遗传杂志, 2011, 19(9):64.
[14] Garcia RE, Garcia GE, Perez SA, et al. A new observation of 13q deletion syndrome:severe undescribed features[J]. Genet Couns, 2015, 26(2):213-217.
[15] Wu J, Springett A, Morris JK. Survival of trisomy 18(Edwards syndrome) and trisomy 13(Patau Syndrome) in England and Wales:2004-2011[J]. Am J Med Genet A, 2013, 161A(10):2512-2518.
[16] Rios A, Furdon SA, Adams D, et al. Recognizing the clinical features of Trisomy 13 syndrome[J]. Adv Neonatal Care, 2004, 4(6):332-343.
[17] Zhao XR, Han X, Wang YL, et al. Molecular and cytogenetic characterization of a fetus with mosaic ring chromosome 13:a very rare case[J]. Chinese Med J-Peking, 2017, 130:3007-3008.
[18] Kaylor J, Alfaro M, Ishwar A, et al. Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results[J]. Cytogenet Genome Res, 2014, 144:104-108.
[19] Bylund M, Andersson E, Novitch BG, et al. Vertebrate neurogenesis is counteracted by Sox1-3 activity[J]. Nat Neurosci, 2003, 6(11):1162-1168.
[20] Hempel M, Cremer K, Ockeloen CW, et al. De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment[J]. Am J Hum Genet, 2015, 97(3):493-500.
[21] Hattori E, Liu C, Badner JA, et al. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series[J]. Am J Hum Genet, 2003, 72(5):1131-1140.