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The 18p- syndrome and Iga deficiency

N.C. Magnelli; A.L. Vargas

Instituto de Genética, Facultad de Ciencias Médicas, Universidad Nacional de Cuyo, Mendoza, Argentina. Send correspondence to N.C.M.

ABSTRACT

Peripheral blood culture for a girl referred with the main complaint of retarded growth and recurrent infection showed a 46,XX,18p- karyotype. Banding techniques showed neither translocation nor pericentric inversion, the abnormal chromosome being the result of a simple deletion.
Clinical data are in full agreement with the classical 18p- syndrome, but in addition the patient shows megaesophagus, a malformation not previously described.
Immunological studies were performed and a complete absence of IgA was found.
The association of 18p- and immunological abnormality has been observed repeatedly and its significance is discussed.

Keywords: 18p-syndrome; Iga; deficiency.

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