Abstract
A child with multiple congenital anomalies was found to have a trisomy of the short arms of a number 4 chromosome. The patient was first seen at the age of 3 months and the following abnormal physical findings were present: deep set eyes and bilateral microphthalmia, micrognathia, posteriorly rotated ears with prominent helices and antihelices, hypoplastic male genitalia with a very small penis, severe flexion contracture of all the proximal interphalangeal joints and milder contractures of the hips and knee joints. Motor and mental retardation have been documented in the two year follow-up. Chromosome analysis utilizing the technique of Giemsa banding revealed that the patient's mother had a karyotype of 46,XX t(4P-;20p+) and was a balanced translocation carrier between a number 22 chromosome and the short arms of a number 4 chromosome. The patient had inherited the “translocation chromosome” - a composite of a number 22 and the short arms of a number 4 - from his mother. This resulted in an offspring effectively trisomic for the short arms of chromosome number 4 and exhibiting multiple congenital anomalies.
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Sommer, A., Kontras, S. A t(4p-;20+) FAMILY. Pediatr Res 8, 442 (1974). https://doi.org/10.1203/00006450-197404000-00610
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DOI: https://doi.org/10.1203/00006450-197404000-00610