Trisomy 21q- Syndrome (21q Deletion Syndrome)
General: Chromosome 21q deletion 949f57j syndrome.
Ocular: Blepharochalasis; microphthalmia with persistent hypoplastic primary vitreous.
Clinical: Mental and physical retardation; generalized hypertonia; high nasal bridge; micrognathia; malformed ears with preauricular pits, and overlying fingers.
Flaherty L, et al. A case of monosomy 21 found to be an unbalanced de novo t(5q;21q) by fluorescence in situ hybridization. J Intellect Dis Res 1998; 42[Part 3]:254-258.
Philip N, et al. Three new cases of partial monosomy 21 resulting from one right 21 chromosome and two unbalanced reciprocal translocations. Eur J Pediatr 1984; 142:61-64.
Yamamoto Y, et al. A case of 21q-syndrome with normal SOD-l activity. Hum Genet 1979; 48:321-327.
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