A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant
- 1 January 1992
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 41 (1) , 54-56
- https://doi.org/10.1111/j.1399-0004.1992.tb03631.x
Abstract
Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin Genet 1992:41: 54–56. We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hyperte-lorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.Keywords
This publication has 1 reference indexed in Scilit:
- Contents Vol. 51, 1989Cytogenetic and Genome Research, 1989