Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection

We report on a 17-month-old girl with multiple malformations, including lun g hypoplasia, multiple ventricular septal defects, craniofacial anomalies, and malrotation of the intestine. Moreover, the patient showed Robin sequen ce, developmental delay, as well as pre- and postnatal growth retardation. Postnatal cytogenetic analysis revealed an interstitial deletion on the lon g arm of chromosome 2, Microdissection and reverse chromosome painting of t he aberrant chromosome 2 as well as FISH with a panel of chromosome 2q band -specific YACs mapped the deletion to 2q33-q35, Lung hypoplasia has not bee n described so far in patients with del(2)(q33-q35), A review of previously reported patients showed variable phenotypes apparently due to different d eleted chromosomal segments. , (C) 2000 Wiley-Liss, Inc.