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Fig. 4 | Molecular Cytogenetics

Fig. 4

From: Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Fig. 4

Family study of homozygous and heterozygous deletion of the GLDC gene. High-resolution oligo-SNP array analysis of the proband revealed a 25-kb homozygous and a 50-kb heterozygous deletion at the 5′ region of the GLDC gene. These two deletions involved multiple exons and led to autosomal recessive glycine encephalopathy (nonketotic hyperglycinemia; OMIM #605899). Family study showed the mother was a carrier of a 25-kb heterozygous deletion and the father was a carrier of a 75-kb heterozygous deletion of the GLDC gene. The 25-kb maternally inherited deletion was located within the 75-kb paternally inherited deletion, and thus led to a 25-kb homozygous and a 50-kb heterozygous deletion in the proband

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Molecular Cytogenetics

ISSN: 1755-8166