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A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
Ann Genet 1993; 36(4):217-20AG

Abstract

A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.

Authors+Show Affiliations

Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, N. H. 03756.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8166428

Citation

Park, J P., et al. "A Case of De Novo Translocation 7; 10 and the Duplication 7p, Deletion 10p Phenotype." Annales De Genetique, vol. 36, no. 4, 1993, pp. 217-20.
Park JP, McDermet MK, Moeschler JB, et al. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype. Ann Genet. 1993;36(4):217-20.
Park, J. P., McDermet, M. K., Moeschler, J. B., & Wurster-Hill, D. H. (1993). A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype. Annales De Genetique, 36(4), pp. 217-20.
Park JP, et al. A Case of De Novo Translocation 7; 10 and the Duplication 7p, Deletion 10p Phenotype. Ann Genet. 1993;36(4):217-20. PubMed PMID: 8166428.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype. AU - Park,J P, AU - McDermet,M K, AU - Moeschler,J B, AU - Wurster-Hill,D H, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 217 EP - 20 JF - Annales de genetique JO - Ann. Genet. VL - 36 IS - 4 N2 - A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/8166428/A_case_of_de_novo_translocation_7 DB - PRIME DP - Unbound Medicine ER -