© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_26 26. Von Hippel-Lindau Disease Catherine A. Stolle1 (1) Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, ARC 714G, 34th and…
© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_23 23. Familial Adenomatous Polyposis and Turcot and Peutz–Jeghers Syndromes Kandelaria M. Rumilla1 (1) Department of Laboratory Medicine and Pathology, Laboratory Genetics, Mayo Clinic,…
© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_22 22. Inherited Breast Cancer Rachel Michaelson-Cohen1, 2, Rachel Beeri2, Eliahu Golomb3 and Ephrat Levy-Lahad1, 2 (1) Hebrew University Medical School, Jerusalem, Israel (2) Medical Genetics…
Gene Spectrum of clinical features MOI Location/function HCM DCM ARVC RCM LVNC Other ABCC9 X AD Potassium channel ACTC1 X X X X AD Sarcomere ACTN2 X X AD…
Figure 13.1 Examples of allelic configurations and their interpretations in carrier testing (a–d) and diagnostic testing (e–g) when classic or non-classic mutations are detected. *c.350G>A (p.R117H) and c.1210-12T (intron 8…
mtDNA mutations Gene Associated disorders m.583G>A MT–TF MELAS, mitochondrial myopathy and exercise intolerance [27] m.1494C>T MT–RNR1 Maternally inherited deafness or aminoglycoside-induced deafness [27] m.1555A>G MT–RNR1 Account for majority of patients…
Precounseling assessment Construct medical pedigree, review pertinent medical records, and perform clinical assessment Risk assessment Calculate risk for occurrence using medical pedigree, test results, medical literature, and Bayesian analysis Counsel…
CDG subtype Type of defect PMM2-CDG (CDG-Ia)* N-glycosylation MPI-CDG (CDG-Ib)* N-glycosylation ALG6-CDG (CDG-Ic)* N-glycosylation ALG3-CDG (CDG-Id)* N-glycosylation ALG12-CDG (CDG-Ig)* N-glycosylation ALG8-CDG (CDG-Ih)* N-glycosylation ALG2-CDG (CDG-Ii)* N-glycosylation DPAGT1-CDG (CDG-Ij)* N-glycosylation ALG1-CDG…
