Session

18.03.2022     11:40–12:30

Titel:
Poster Session
ClinG 2
Art:
Poster
Raum:

18.03.2022
11:40–12:30

Titel:
Poster Session
ClinG 2
Art:
Poster
Raum:

11:40–11:42
P-ClinG-034 First description of inheritance of a postzygotic OPA1 mosaic variant
Svenja Alter (Freiburg/DE)
Redezeit: 2 min


11:42–11:44
P-ClinG-038 Why we should re-analyse – Insights from 152 cases with developmental disorders
Tobias Bartolomaeus (Leipzg/DE)
Redezeit: 2 min


11:44–11:46
P-ClinG-044 Poirier-Bienvenu neurodevelopmental syndrome in three brothers due to a pathogenic CSNK2B-variant and paternal germ line mosaicism
Silja Burkhard (Innsbruck/AT)
Redezeit: 2 min


11:46–11:48
P-ClinG-046 Unexpected Array CGH result in a patient with leading symptom ocular coloboma
Kirsten Cremer (Bonn/DE), Hartmut Engels (Bonn/DE), Jessica Trautmann (Bonn/DE)
Redezeit: 2 min


11:48–11:50
P-ClinG-048 BRCA2-stress-paradigm: BRCA2 heterozygosity and additional stress factors predispose to neuropsychiatric abnormalities
Malin Dewenter (Mainz/DE), Ann-Sophie Pabst (Mainz/DE)
Redezeit: 2 min


11:50–11:52
P-ClinG-050 Optimized clinical exome design to analyse complex genetic regions covering all inherited eye diseases and retinal dystrophies
Tobias Eisenberger (Mainz/DE), Valeska Frank (Mainz/DE)
Redezeit: 2 min


11:52–11:54
P-ClinG-052 Towards European Standard Clinical Practice guidance for individuals with familial leukemia
Alisa Förster (Hannover/DE)
Redezeit: 2 min


11:54–11:56
P-ClinG-054 Increased nuchal translucency (NT). Can we do more? Prenatal trio exome sequencing revealed unexpected findings in fetuses with increased NT
Heinz Gabriel (Tuebingen/DE)
Redezeit: 2 min


11:56–11:58
P-ClinG-056 BCORL1 variant in two male fetuses with multiple ultrasonographic abnormalities
Irina Hüning (Lübeck/DE), Rebecca Gembicki (Lübeck/DE)
Redezeit: 2 min


11:58–12:00
P-ClinG-058 A rare case of 3MC syndrome with thoracic aortic dissection
Maria Grossmann (Dresden/DE)
Redezeit: 2 min


12:00–12:02
P-ClinG-060 Two sisters with a novel homozygous pathogenic variant in PSAP causing metachromatic leukodystrophy
Britta Hanker (Lübeck/DE)
Redezeit: 2 min


12:02–12:04
P-ClinG-062 Baraitser-Winter-Cerebrofrontofacial Syndrome 2 with early onset severe autistic behavior: A case report
Theresia Herget (Hamburg/DE)
Redezeit: 2 min


12:04–12:06
P-ClinG-064 Non-directiveness and shared decision-making in genetic counselling in the context of prenatal diagnostics – A systematic review from 1990 to 2021
Wera Hofmann (Stuttgart/DE)
Redezeit: 2 min


12:06–12:08
P-ClinG-066 Novel OTUD5 variant detected in a patient with multiple congenital anomalies-neurodevelopmental syndrome and suggested in a fetus in the same family
Irina Hüning (Lübeck/DE)
Redezeit: 2 min


12:08–12:10
P-ClinG-068 PHIP-associated Chung-Jansen syndrome: report of 14 new individuals
Antje Kampmeier (Essen/DE), Alma Kuechler (Essen/DE)
Redezeit: 2 min


12:10–12:12
P-ClinG-070 Diagnosis of congenital contractural arachnodactyly (CCA) in a 12-year-old boy by clinical score and a novel de novo missense variant in FBN2
Martin Kehrer (Tübingen/DE)
Redezeit: 2 min


12:12–12:14
P-ClinG-072 SCN1A-associated arthrogryposis multiplex cogenita – two new patients
Inga Nagel (Kiel/DE)
Redezeit: 2 min