Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46, XX,del(2) (q31q33)

We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low-set ears, and hand and foot abnormalities.