del(7)(q35—>qter)
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#