Presentation is loading. Please wait.

Presentation is loading. Please wait.

Figure 1. Pedigree and clinical picture of the patient

Published byMonica Georgina Jones Modified over 5 years ago

Similar presentations

Presentation on theme: "Figure 1. Pedigree and clinical picture of the patient"— Presentation transcript:

1 Figure 1. Pedigree and clinical picture of the patient
Pedigree and clinical picture of the patient (A) Snapshot of the patient demonstrates dystonic postures of the limbs, trunk, and neck. (B) Pedigree comprises the index patient (filled symbol) and her healthy parents (blank symbols). Results of the validation of the de novo mutation in GNB1 (c.353A>G, p.D118G) by Sanger sequencing on the reverse strand are shown. Both unaffected parents carry 2 wild-type alleles at the respective position (highlighted by arrow), while the affected daughter is a heterozygous mutation carrier. Sofia Steinrücke et al. Neurol Genet 2016;2:e106 © 2016 American Academy of Neurology

Download ppt "Figure 1. Pedigree and clinical picture of the patient"

Similar presentations

NOTES 23 - Pedigrees. What is a pedigree? Pedigree – A picture of an individual’s family tree that shows which members of the family have a particular.

NOTES 23 - Pedigrees. What is a pedigree? Pedigree – A picture of an individual’s family tree that shows which members of the family have a particular.
Figure Pedigrees of the SCA42 families identified in this study

Figure Pedigrees of the SCA42 families identified in this study
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)  Benedikt D. Spielberger, Cristina.

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)  Benedikt D. Spielberger, Cristina.
Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.

Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations  Dora Janeth.

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations  Dora Janeth.
Figure Cerebral MRI and molecular and enzymatic analysis

Figure Cerebral MRI and molecular and enzymatic analysis
Figure 1. Type and distribution within KCNQ2 protein of variants in self-limiting epilepsy vs epileptic encephalopathy Type and distribution within KCNQ2.

Figure 1. Type and distribution within KCNQ2 protein of variants in self-limiting epilepsy vs epileptic encephalopathy Type and distribution within KCNQ2.
Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.
Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil.

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 
Figure 2 FXTAS Rating Scale scores for case 1

Figure 2 FXTAS Rating Scale scores for case 1
Figure 2. Ophthalmologic findings of bialleic AP5Z1 mutations

Figure 2. Ophthalmologic findings of bialleic AP5Z1 mutations
Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.

Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.
Figure Pedigree of the family

Figure Pedigree of the family
Figure 3 Transcripts of the splicing mutation (c

Figure 3 Transcripts of the splicing mutation (c

Similar presentations

Ads by Google