Summary
Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arterious, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome. Evaluation of the asymptomatic mother of these two patients revealed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22qll. These findings provide further evidence that some cases of complete or partial DiGeorge syndrome are associated with monosomy of the proximal long arm of chromosome 22, and they may explain many, if not all, familial cases of the syndrome.
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References
Centerwall WR, Thompson WP, Allen IE, Fober CD (1975) Translocation 4p-syndrome. Am J Dis Child 129:366–370
Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of DiGeorge syndrome. J Pediatr 94:883–890
De la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57: 253–256
Franke U (1977) Abnormalities of chromosomes 11 and 20. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York, pp 245–272
Fried K, Goldberg MD, Rosenblatt M (1980) Proximal 14 trisomy 46XX,-22,+der(14)t(14;22)(q21:q11)mat. Teratology 21:309–312
Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH (1982) The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr 101:197–200
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD (1981) Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304:325–329
Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982) Chromosome 15 abnormalities and the PraderWilli syndrome: A follow-up report of 40 cases. Am J Hum Genet 34:278–285
Mallette LE, Tuma SN, Berger RE, Kirkland JL (1982) Radioimmunoassay for the middle region of human parathyroid hormone using an homologous antiserum with a carboxy-terminal fragment of bovine parathyroid hormone as radioligand. J Clin Endocrinol Metab 54:1017–1024
Rosenthal IM, Bocian M, Krmpotic E (1972) Multiple anomalies including thymic aplasia associated with monosomy 22. Pediatr Res 6:358 (abstr)
Silengo MC, Andria G (1976) Partial monosomy 22 as the result of an unbalanced translocation 5: 22 in a patient with cri-du-chat syndrome. Hum Genet 34:319–322
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Supported in part by National Foundation-March of Dimes Grant No. 2-161/C-331. Funds from the Texas Department of Health through PL94-278 National Genetic Diseases Act, from the Robert J. Kleberg, Jr. Center for Human Genetics, and USPHS Grant No. RR-05425.
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Greenberg, F., Crowder, W.E., Paschall, V. et al. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet 65, 317–319 (1984). https://doi.org/10.1007/BF00291554
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DOI: https://doi.org/10.1007/BF00291554