Case study - very intersting for Niemann-pick disases ?

Omar Ismael aljumaili @Omar-Ismael-Aljumaili

02 November 2023 0 6K Report

copules with heterozygous of exon 9 c1340A>G (p.Gin447Arg) (class 2) for Niemann-pick disease , type C1,D , OMIM:257220 also heterozygous for Exon 5 (c.458G>T) (p.Gly153Val) (rs769409705) class 2 (SLC34A1 Rrelated disease OMIM:182309 AD/AR) , furthermore , heterozyous in Exon 10 (c.768dup p.Val1257SerfsTer39 )(rs1567713938) class2 (CTNS relared disease OMIM:606272 AR

AR=Autosomal recessive

AD=Autosomal Dominent

Note : this famility have a child with Niemann-pick diseae and die after 6 months

what is the percentage toget a nomal healthy baby ?

what is the best choice to detect this disease during normal pregnany ? FISH or PCR or NGS (last choice beacuse take a long time to compelete test in our countiy )

best regards for all doctors help this family

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