Summary
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.
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Herva, R., von Wendt, L. De novo trisomy 4pter→q21. Hum Genet 41, 225–230 (1978). https://doi.org/10.1007/BF00273105
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DOI: https://doi.org/10.1007/BF00273105