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del(1)(p34.3p36.11) - Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Chromosomal diseases > Microdeletion syndromes > del(1)(p34.3p36.11)

del(1)(p34.3p36.11)

Friday 3 February 2006

Synopsis

- congenital cardiac malformations

  • cardiomegaly
  • Ebstein anomaly
  • secundum atrial septal defect
  • subendocardial fibroelastosis

- pulmonary lymphangiectasis
- high arched palate
- short neck
- bilateral long proximally implanted thumbs

References

- Yang H, Lee CL, Young DC, Shortliffe M, Yu W, Wright JR. A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally. Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):251-5. PMID: 16095036