Trisomy 2p: Analysis of unusual phenotypic findings

We present three probands with partial trisomies 2p21–23 due to ins(4;2)(q21;p21p23) pat, 2p23‐pter due to t(2;4)(p23;q35)mat, and 2p21‐pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non‐karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non‐karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of “broncho‐pulmonary a/hypoplasia” (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21–p25). Three patients (with overlapping triplicated segment 2p23–p25) had diaphragmatic hernia. Abnormal rotation of the heart or L‐transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23p24). In two patients with common triplicated segment 2p22.3–p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some “restrictive” combinations the abnormal embryos will die, although in “permissive” combinations they can survive. © 1995 Wiley‐Liss, Inc.