Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Microdeletion syndromes > 7q terminal deletion syndrome
7q terminal deletion syndrome
Sunday 11 July 2010
Clinical synopsis
esophageal stenosis growth retardation microcephaly coloboma of papilla ptosis hearing loss urinary tract anomalies partial agenesis of sacrum hypotonia neuropsychomotor delay odontoid hypoplasia esophageal stenosis (#20601258#)
Anomalies
7q terminal deletion
- del(7)(q35—>qter) (#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#
Murphy SG, Yazbeck S, Russo P. Isolated congenital esophageal stenosis. J Pediatr Surg. 1995 Aug;30(8):1238-41. PMID: #7472993#
