Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)

Lignende værker

• A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins
  af: Atli, Emine I., et al.
  Udgivet: (2020)
• Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report
  af: Demir, Selma, et al.
  Udgivet: (2021)
• Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
  af: Yalcintepe, Sinem, et al.
  Udgivet: (2020)
• Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
  af: Emine Ikbal Atli, et al.
  Udgivet: (2022-05-01)
• The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies
  af: Atli, Emine Ikbal, et al.
  Udgivet: (2021)