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Dyskeratosis congenita

Dyskeratosis congenita

Dyskeratosis congenita. Philip J Mason. Departments of Internal Medicine and Genetics Washington University Medical School St Louis Missouri. Dyskeratosis congenita (DC ). Different genetic forms - X-linked form and dyskerin - autosomal dominant form and anticipation. Telomerase.

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1.91k views • 65 slides
Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report. Caroline O.A. Melo, Daniela M. Silva, and Aparecido D. da Cruz. AIS Overview . AIS is an X-linked disorder caused by mutations in the Androgen Receptor gene

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565 views • 18 slides
Gene identification by whole genome array CGH

Gene identification by whole genome array CGH

Gene identification by whole genome array CGH. Richard Barber Richard.Barber@bwhct.nhs.uk 21st February Gene Discovery. Rearrangements. Large genomic rearrangements have been instrumental in identifying disease loci for many syndromes APC RB DMD UBE3A

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306 views • 17 slides
Mutation and DNA

Mutation and DNA

Mutation and DNA. Mutation = change(s) in the nucleotide/base sequence of DNA; may occur due to errors in DNA replication or due to the impacts of chemicals or radiation to the DNA molecule Mutation may result in coding sequences for new amino acids in proteins or not!.

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501 views • 14 slides
Multiplex Ligation-dependent Probe Amplification (MLPA )

Multiplex Ligation-dependent Probe Amplification (MLPA )

Multiplex Ligation-dependent Probe Amplification (MLPA ). For large deletion and deletion in unpredicted sites and duplication we can use MLPA In detection of aneupolidy e.g. trisomy 13,18 and 21 and monosomy turner. In this case probes are designed against STRs.

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1.41k views • 4 slides

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