Copyright
©The Author(s) 2020.
World J Clin Cases. Nov 6, 2020; 8(21): 5296-5303
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5296
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5296
Figure 3 Depiction of allele peaks on chromosome Xq25-q26 shows homozygous (top and bottom bands) and heterozygous (middle band) allele peak bands.
Note the loss of the middle band showing loss of heterozygosity of Xq25-26.3. The genes related to X-linked diseases (OCRL, AIFM1, IGSF1, GPC3, PHF6, HPRT1) (orange) such as Dent disease 2, Lowe Oculo-Cerebro-Renal syndrome, cowchock syndrome, central hypothyroidism and testicular enlargement, Simpson-Golabi-Behmel syndrome, Borjeson-Forssman-Lehman syndrome and Lesch-Nyhan are shown.
- Citation: Toral-Lopez J, González Huerta LM, Messina-Baas O, Cuevas-Covarrubias SA. Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report . World J Clin Cases 2020; 8(21): 5296-5303
- URL: https://www.wjgnet.com/2307-8960/full/v8/i21/5296.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i21.5296