title: The problem of trisomy 22. A case report and a discussion of the variant forms.
abstract: A case of trisomy 22 with partial long arm deletion (47, +22 q-) studied by G-banding is presented. The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia. The father's karyotype was normal. The mother's karyotype was 46 XX, but one of the no22 chromosomes showed a deletion of the long arm as seen in the proband's karyotype. A comparison with previously reported cases in the literature indicates a great variability of clinical features of trisomy 22: "classical form," cat eye syndrome, and abortive cases (as this reported case).
mesh_terms: D000015:Abnormalities, Multiple; D002904:Chromosomes, Human, 21-22 and Y; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy