Familial trisomy 3q25----qter. Report of two cases.

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.

Screening for inborn errors of the erythrocyte metabolism in Northwestern Mexico.

Data from a program aiming to the detection of inborn errors of the erythrocyte metabolism (IEEM) in Northwestern Mexican populations are presented. 5,998 individuals were studied and divided in 5 groups: a) 1,022 full-term newborns without jaundice; b) 872 randomly selected full-term newborns; c) 3,243 full-term newborns with jaundice; d) 54 patients with hemolytic anemia, and e) 807 professional blood donors. In groups b, c and d screening for 9 out of 14 IEEM clearly associated with hemolysis was carried out by means of enzymatic fluorescent procedures. In groups a and e only G-6-PD deficiency was investigated. The results suggest that 0.34%, 0.77%, 24% and 0.37% of the individuals from groups b, c, d and e, respectively, have an IEEM. The frequency of G-6-PD deficiency was 0, 0.43%, 1.1%, 30.3% and 0.37% in the males from groups a, b, c, d and e, respectively. The IEEM as a cause of neonatal jaundice seem not to be a public health problem in the studied populations. Systematic screening for: 1) G-6-PD deficiency in newborns with jaundice and 2) IEEM in patients with hemolysis, is recommended.