Congenital Diaphragmatic Hernia and Chromosomal Anomalies: Autopsy Study

Dariusz Borys, Jerome B. Taxy

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


In a 10-year review of autopsy records from Lutheran General Hospital (1992-2002), 13 cases of congenital diaphragmatic hernia (CDH) were found. The fetuses ranged between 21 and 35 wk of gestation. Four were born alive and five were diagnosed prenatally. The defect was left-sided in 11 cases. Cytogenetic study revealed five cases with normal karyotype and three cases with complex karyotypes. In five cases, no karyotype was performed. The three complex karyotypes were: 46,XX,del(8)(p23.1), 47,XX,+i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome), and 47,XY,+der(22)t(11:22) (q23.3:q11.2). The unbalanced translocation of chromosomes 11 and 22 in congenital diaphragmatic hernia has not been previously described. Three fetuses had heart abnormalities, including one which was associated with the 8p deletion. The other two had no karyotype study. Neither in this study, nor in the literature, is there a consistent or prevailing association between a specific chromosomal anomaly and CDH. The embryologic closure of the diaphragmatic leaflets may be mediated by a nonstructural chromosomal defect, more than one gene, and/or may be related to abnormalities not currently detectable.

Original languageEnglish (US)
Pages (from-to)35-38
Number of pages4
JournalPediatric and Developmental Pathology
Issue number1
StatePublished - Jan 2004
Externally publishedYes


  • Chromosomal anomalies
  • Congenital diaphragmatic hernia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


Dive into the research topics of 'Congenital Diaphragmatic Hernia and Chromosomal Anomalies: Autopsy Study'. Together they form a unique fingerprint.

Cite this