Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)

Abstract

We evaluated an infant because holoprosencephaly had been detected by prenatal ultrasound examination and magnetic resonance imaging (MRI). Postnatally, high-resolution cytogenetic studies showed a minute deletion of chromosome 21(q22.3). This patient lacks many of the characteristics associated with monosomy 21, partial monosomy 21, and ring 21 chromosome patients. She also lacks the midline facial abnormalities often seen with holoprosencephaly. The similarity in facial appearance between this case and one previously reported patient with holoprosencephaly and a ring chromosome 21 suggests a causal relationship between holoprosencephaly and deletion of chromosome 21(q22.3). These findings also suggest that infants and children with developmental delay and apparently normal facial appearance should be examined for holoprosencephaly and that all identified patients with holoprosencephaly need high-resolution cytogenetic studies with careful attention to the terminal portion of 21q.