title: Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
abstract: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination.
  
  
  
  Nine family members were tested for TBX5 gene mutation.
  
  
  
  Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling.
  
  
  
  Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests.
authors.forename: Zofia
authors.initials: Z
authors.lastname: Walencka
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.affiliation: Department of Neonatology, School of Medicine in Katowice, Medical University of Silesia in Katowice.. piotr.surmiak@sum.edu.pl.
authors.forename: Piotr
authors.initials: P
authors.lastname: Surmiak
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Baumert
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Andrzej
authors.initials: A
authors.lastname: Witek
authors.forename: Anna
authors.initials: A
authors.lastname: Materna-Kiryluk
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bieleńska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Socha
authors.forename: Anna
authors.initials: A
authors.lastname: Sowińska-Seidler
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D038061:Lower Extremity Deformities, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020825:T-Box Domain Proteins / Q000097:blood / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D015415:Biomarkers; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5
keywords: Holt-Oram syndrome; TBX5 gene; congenital disorders