Familial DiGeorge syndrome and associated partial monosomy of chromosome 22
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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.
KeywordsInternal Medicine Family History Metabolic Disease Postmortem Examination Familial Case
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- Centerwall WR, Thompson WP, Allen IE, Fober CD (1975) Translocation 4p-syndrome. Am J Dis Child 129:366–370Google Scholar
- Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of DiGeorge syndrome. J Pediatr 94:883–890Google Scholar
- De la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57: 253–256Google Scholar
- Franke U (1977) Abnormalities of chromosomes 11 and 20. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York, pp 245–272Google Scholar
- Fried K, Goldberg MD, Rosenblatt M (1980) Proximal 14 trisomy 46XX,-22,+der(14)t(14;22)(q21:q11)mat. Teratology 21:309–312Google Scholar
- 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 101:197–200Google Scholar
- 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 304:325–329Google Scholar
- 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 34:278–285Google Scholar
- 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 54:1017–1024Google Scholar
- Rosenthal IM, Bocian M, Krmpotic E (1972) Multiple anomalies including thymic aplasia associated with monosomy 22. Pediatr Res 6:358 (abstr)Google Scholar
- 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 34:319–322Google Scholar