Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome.

Prophylactic transfusions in pregnant patients with sickle hemoglobinopathies: benefit versus risk.

Pregnancy in patients with sickle cell disease has been a significant threat to maternal survival and good reproductive outcome. In the past several years, statistics for both maternal and perinatal outcome have improved. There is controversy, however, as to whether this improvement has resulted from the use of maternal transfusions or the aggressive and intense medical management afforded these patients in recent years. This study details the reproductive experience of 80 pregnant patients with significant hemoglobinopathies, 75 of whom were treated with partial prophylactic exchange transfusions during gestation. Each of the 75 patients who completed the protocol received 2 transfusions using buffy coat-poor washed packed red cells. The results show that there was no maternal mortality and a significant improvement in maternal morbidity compared to previous studies. There was also a significant improvement in fetal salvage, with a perinatal mortality rate of 26 per 1000. In addition, there were fewer premature and low birth weight infants as compared to other studies in the literature. Although these results were favorable, only a randomized multicentered study in the future will detail advantages and disadvantages of such therapy in the gravid sickle cell patient compared to intensive medical treatment without transfusion.