Article
Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection.
American journal of medical genetics - 18 Sept 2000
Kramer B W, Martin T, Henn W, Lal S, Speer C P
Abstract excerpt
We report on a 17-month-old girl with multiple malformations, including lung hypoplasia, multiple ventricular septal defects, craniofacial anomalies, and malrotation of the intestine. Moreover, the patient showed Robin sequence, developmental delay, as well as pre- and postnatal growth retardation. Postnatal cytogenetic analysis revealed an interstitial deletion on the long arm of chromosome 2. Microdissection...
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