Total: 2 |
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PMID (PMCID) | ||
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18493898 |
FEMALE | Infant, Newborn |
Congenital microgastria and primary ciliary dyskinesia in a newborn with DiGeorge syndrome and 22q11.2 deletion. | ||
Filippi L, Serafini L, Fiorini P, Agostini E, Giovannucci Uzielli ML. Eur J Pediatr Surg. 2008;18(3):195-7. |
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The case of a female newborn with multiple abnormalities, including cardiovascular malformation (type I truncus arteriosus communis) with deletion of chromosome 22q11.2, severe immunodeficiency (DiGeorge syndrome), microgastria, and impaired mucociliary function (primary ciliary dyskinesia) is reported. | ||
17431914 |
MALE | Infant |
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. | ||
Dempsey MA, Schwartz S, Waggoner DJ. Am J Med Genet A. 2007;143A(10):1082-6. |
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We report on a male with truncus arteriosus and an interrupted aortic arch, immunodeficiency, and hypocalcemia. |