OBJECTIVE: Report two patients, one with trisomy 13 mosaicism and the other with trisomy 18, both with unusual clinical presentations. CASE DESCRIPTION: The first case was a female patient with two months of age who presented growth deficiency, minor dysmorphia of face and limbs, unilateral facial paresis, congenital heart defect and hypotonia, who developed hypochromic spots and neuropsychomotor delay. The second case was a male patient with 19 days of age who also had growth deficiency, minor facial anomalies, radial defect, congenital heart defect and hypertonia. GTG-Banding karyotypes confirmed the diagnosis of Patau and Edwards syndromes respectively. COMMENTS: The aim of these reports is to call attention to the fact that Patau and Edwards syndromes may present an unusual pattern of abnormalities, making the diagnostic hypothesis difficult.
trisomy; chromosomes human pair 13; mosaicism; chromosomes human pair 18
