Summary
We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,−14,−22,+der(14)(14pter→14q32.32::22q11.21→22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.
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Nukina, S., Nishimura, Y., Kinugasa, A. et al. A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation. Jap J Human Genet 34, 235–241 (1989). https://doi.org/10.1007/BF01900727
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DOI: https://doi.org/10.1007/BF01900727