A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes

To the Editor:Mosaic trisomy 22 is a rare chromosomal disorder compatible with prolonged survival, whereas complete non-mosaic trisomy 22 is incompatible with life [Crowe et al., 1997;Patel and Madon, 2004].The physical characteristics of mosaic trisomy 22 include growth retardation, severe mental retardation, a webbed neck, limb malformations such as syndactyly and brachydactyly, as well as hypoplasia and an altered pigmentation called hypomelanosis of Ito [Ritter et al., 1990].Common craniofacial abnormalities associated with trisomy 22 patients include microcephaly, macrocephaly, prominent forehead, flat nasal bridge, cleft palate, preauricular pits, hypertelorism, micrognathia, bilateral epicanthic folds, and malformed low-set ears.These features are not manifest in all patients with the disorder, though most present with an assortment of these characteristics.Additionally, many patients with trisomy 22 have congenital heart defects, hearing loss, and genital disorders such as cryptorchidism [Kukolich et al., 1989;Florez and Lacassie, 2005].Previous reports on mosaic trisomy 22 have focused on the familial, phenotypic, and cytogenetic characteristics of the disorder.Crowe et al. [1997] described one child's growth to 3 years, the child's physical characteristics, and cytogenetic and molecular analysis.In this article, we provide new information on this child with trisomy 22 on whom Crowe and her colleagues [1997] previously reported.This study documents the cognitive, linguistic, behavioral, physical, and dental development across six time points from birth to 14 years of age.