Interstitial deletion (2)(q11.2-q21) in a newborn with multiple malformations

Here we describe the clinical symptoms of a newborn with the largest proximal deletion of the long arm of chromosome 2, which has ever been described in a child.

The pregnancy was complicated by an IUGR, further ultrasound tests were reported to be normal. The girl was born by cesarian section in 33th week of gestation in context with a silent CTG. She exhibited multiple abnormalities such as microcephaly, complex heart malformation, cleft palate, hypoplastic corpus callosum, partial bilateral syndactyly of toes II and III as well as syndromic signs. The child revealed a thrombocytopenia and an unexplained cholestasis. The girl died at the age of 3 months. Karyotyping revealed an interstitial deletion of chromosome (2)(q11.2-q21). Until time of writing the abstract the parents denied karyotyping. Only a few long arm deletions of chromosome 2 partially overlapping with the deletion of child shown here have been described scientifically up to now. The symptoms of the patient will be discussed in respect to literature.