Partial monosomy for chromosome 22 in a patient with del(22)(pter-q!3.1::ql3.33-qter)

Abstract

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter→q13.1::q13.33→qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.