Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional deletions > del(7)(q35—>qter)

del(7)(q35—>qter)

Sunday 11 July 2010

Pathology

- 7q terminal deletion

  • growth retardation
  • microcephaly
  • coloboma of papilla
  • ptosis
  • hearing loss
  • urinary tract anomalies
  • partial agenesis of sacrum
  • hypotonia
  • neuropsychomotor delay
  • odontoid hypoplasia
  • esophageal stenosis (20601258)

References

- Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin GA. Eur J Med Genet. 2010 Jun 22. PMID: 20601258