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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Fig. 2

a. Deletion in our patient indicated by red bar by ChAS Software. Decreased weighted Log2Ratios and collapsed allele difference tracks point to a hemizygous deletion (copy number 0) spanning genomic position 49,649,22,650,351,579 bp (hg19). b. Deletion in our patient (red bar) covering two disease-related genes: CLCN5 and parts of SHROOM4 (green bar) and three other genes (AKAP4, CCNB3, DGKK). c. Deletion in our patient (red bar) encompasses last coding exons of SHROOM4

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BMC Medical Genomics

ISSN: 1755-8794

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