Skip to main content
Fig. 3 | BMC Neurology

Fig. 3

From: A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Fig. 3

Refining deletion breakpoints in DGDP084. a qPCR assays confirmed the Xq22.2 microdeletion in DGDP084. GLRA4 copy number in DGDP084 was compared to her mother as a gender control. The patient’s mother was normal possessing two copies of GLRA4, while the father and the affected female DGDP084 have only one GLRA4 allele on the chromosome X. b The copy number of genes and loci in DGDP084 at Xq22.2 were compared to her mother. The TCEAL1 gene was found to be completely deleted with the proximal deletion breakpoint lying between TCEAL1 and TCEAL3. The distal deletion breakpoint was located in the non-genic region between GLRA4 and PLP1. Asterisks denote differences that are statistically significant

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us