2017, Number 4
<< Back Next >>
Medicentro 2017; 21 (4)
Chromosomal finding associated with a congenital hypothyroidism: a case report
Santana HEE, Tamayo CVJ, Rodríguez FEG
Language: Spanish
References: 10
Page: 356-360
PDF size: 327.03 Kb.
ABSTRACT
An eight-year-old female patient was taken to the Provincial Center of Medical Genetics from Holguin due to her facial and limb dysmorphias, and moderate to severe intellectual disability. The karyotype was performed in peripheral blood using lymphocyte culture micro-technique. The 22 analyzed metaphases showed the chromosomal finding of a karyotype: 46, XX, der (18), (pter 11.1), in a patient with terminal deletion on the short arm of chromosome 18, associated with a congenital hypothyroidism. The aim of this study is to describe a cytogenetic finding associated with a genetic metabolic disease, aggravating its clinical manifestations. It is considered important to carry out the early diagnosis of these genetic diseases in order to provide timely treatment, early stimulation, as well as, an adequate genetic counseling to family members.
REFERENCES
Shi S, Guo L, Zha Q, Shi Z, Yang Y. Genotype and phenotype analysis of a child with partial 18q deletion syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi [internet]. 2017 Aug. 10 [citado 12 sep. 2017];34(4):[aprox. 4 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28777861
Xu LJ, Wu LX, Yuan Q, Lv ZG, Jiang XY. A case of 18p deletion syndrome after blepharoplasty. Int Med Case Rep J [internet]. 2017 Jan. 12 [citado 12 sep. 2017];10:[aprox. 4 p.]. Disponible en: https://www.dovepress.com/a-case-of-18p-deletion-syndrome-after-blepharoplasty-peer-reviewed-fulltext-article-IMCRJ
Pachajoa H. Síndrome por deleción 18p diagnosticado por array de hibridación genómica comparada. Presentación de un caso con fenotipo leve. Arch Argent Pediatr [internet]. 2016 dic. 1 [citado 12 sep. 2017];114(6):[aprox. 2 p.]. Disponible en: http://www.sap.org.ar/docs/publicaciones/archivosarg/2016/v114n6a30.pdf
Qiang YY, Zhang N, Gao YM. A case of whole arm deletion of chromosome 18p. Zhonghua Er Ke Za Zhi [internet]. 2016 Jul. [citado 12 sep. 2017];54(7):[aprox. 1 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/27412746
Mahjoubi F, Razazian F, Torabi R. Clinical Features of a Case with 46,XX,del(18)(p11.1p11.3). Genet Couns [internet]. 2015 [citado 12 sep. 2017];26(3):[aprox. 4 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/26625672
Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet [internet]. 2015 Sep. [citado 12 sep. 2017];169(3):[aprox. 14 p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31445/full
Wei J, Xie Y, He W, Liu W, Jian W, Chen M, et al. Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. Cytogenet Genome Res [internet]. 2014 [citado 12 sep. 2017];144(4):[aprox. 5 p.]. Disponible en: https://www.karger.com/Article/FullText/371461
Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, et al. Whole arm deletions of 18p: medical and developmental effects. Am J Med Genet A [internet]. 2015 Jan. 14 [citado 12 sep. 2017];167(2):[aprox. 11 p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36880/full
Quiñones Maza O, Quintana Aguilar J, Méndez Rosado L. A, Barrios Mesa A, Suárez Mayedo U, García M, del Sol M. Frecuencias de reordenamientos cromosómicos estructurales acorde a las indicaciones para estudios citogenéticos prenatales y postnatales. Rev Cubana Genét Comunit. 2010;4(3):36-42.
Willoughby BL, Favero M, Mochida GH, Braaten EB. Neuropsychological Function in a Child with 18p Deletion Syndrome: A Case Report. Cogn Behav Neurol [internet]. 2014 Sep. [citado 12 sep. 2017];(3):[aprox. 6 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176699/