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Familial trisomy 3q25----qter. Report of two cases
L Garcia-Esquivel1, F Rivas, H Rivera
1Unidad de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Journal De Genetique Humaine
|August 1, 1987
Abstract:
Two girls with the trisomy 3q2 clinical syndrome are presented. Their fathers were twins and carried a t(3;8)(q25;p23). Case 1, aged 8 months, had a 46,XX,der(8) complement. Case 2, died at 5 months of age before cytogenetic study, was considered to have the same karyotype. Both cases combined showed the majority of phenotypical features of trisomy 3q2 syndrome, including facial appearance, glaucoma, and visceral malformations. This observation suggests that the trisomy 3q25----qter is sufficient to produce the syndrome which shows variable expression in these cases.