Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.
Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case.
Ashton-Prolla
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Medical Genetics Unit, Hospital de Clínicas de Porto Alegre, Brazil.
Félix
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TM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014430:Twins, Monozygotic / Q000235:genetics