De novo trisomy 4pter→q21
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 41 (2) , 225-230
- https://doi.org/10.1007/bf00273105
Abstract
Clinical and cytogenetic findings in an infant girl with multiple congenital anomalies, principally anophthalmia, are presented. The patient's karyotype was 47,XX, +del(4)(pter→q21), the largest partial trisomy of chromosome 4 reported. The possible mechanism of the origin of this abnormality is discussed.This publication has 14 references indexed in Scilit:
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