Summary
A 5-year-old boy with multiple congenital anomalies showed a satellited long-arm chromosome 9, a previously undescribed abnormality. Various banding analyses of his chromosomes and those of his parents indicated that a reciprocal translocation, t(9;22)(q34.3;q11.21), occurred in the father's gonad, and one of the translocation chromosomes was then transmitted to the patient. Thus, the patient's karyotype was interpreted as 46,XY,-9,+psudic(9),t(9;22)(q34.3;q11.21). He showed several features similar to those of the Williams syndrome. The gene(s) responsible for the syndrome thus could be at either 9q34.3-qter or 22pter-q11.2. Southern blot analysis of the patient's DNA indicated the presence of two copies of the argininosuccinate synthetase gene which had been assigned to 9q34.1-qter. In view of the fact that the 9q34.3-qter segment is monosomic in the patient, the gene locus was deduced to be at 9q34.1-q34.2 segment.
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This study was supported in part by a Grant-in-Aid for Scientific Research from the Ministry of Education, Science and Culture of Japan (No. 63480472) and by a Grant entrusted from Kyushu Medical Science.
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Harada, N., Abe, K., Kondoh, T. et al. Satellited chromosome 9 in a boy with multiple anomalies. Jap J Human Genet 34, 297–305 (1989). https://doi.org/10.1007/BF01929212
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DOI: https://doi.org/10.1007/BF01929212
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