Summary
A patient with the karyotype of 46,XY,der(11), (7;11) (p15;q25)mat is reported. The major clinical findings of the present case included psychomotor retardation, growth retardation after birth, wide anterior fontanel, left esotropia, sacral dimple, bilateral undescended testis, whorls on six fingers, unilateral palmar transverse crease, and bilateral high axial triaradius.
Prenatal diagnosis was carried out on the fetus conceived subsequent to the birth of the proband. The karyotype of the fetus proved to be 46,XX,der(11), t(7;11)(p15;q25)mat, so that induced abortion was performed. Only micrognathia was a conspicuous finding in the fetus.
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Ohdo, S., Suzumori, K., Madokoro, H. et al. Partial trisomy for 7p due to maternal balanced translocation. Jap J Human Genet 28, 297–300 (1983). https://doi.org/10.1007/BF01876794
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DOI: https://doi.org/10.1007/BF01876794
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