Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. (December 2016)

• Record Type: Journal Article
• Authors: Bogs, Thomas; Kipfmüller, Florian; Kohlschmidt, Nicolai; Gembruch, Ulrich; Müller, Andreas; Reutter, Heiko
• Is Part Of: Journal of medical case reports. Volume 10:Number 1(2016)
• Page Start: 1
• Page End: 4
• Publication Date: 2016-12
• Subjects: Case report -- Congenital diaphragmatic hernia -- Unilateral renal agenesis -- Ear anomaly -- Partial tetrasomy 4q35.2; Medicine -- Research -- Periodicals; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1186/s13256-016-0855-1
• Languages: English
• ISSNs: 1752-1947

Abstract

Abstract Background Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). Case presentation We describe the first association of ade novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father. Conclusions Given that the aberration occurredde novo in the father and was transmitted to his son, with both presenting with unilateral left-sided developmental field defects, we suggest a gene dosage effect of the tetrasomic region to be involved in the phenotype of our two patients. Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations.