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Am J Med Genet. 1995 Nov 6;59(2):161-3.

Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22.

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Department of Pediatrics, New England Medical Center, Boston, Massachusetts, USA.


Multiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1-->qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21, from the centromere to 21q22 [Rethoré et al., 1972, Exp Cell Res 70:455-456, 1973, Ann Genet (Paris) 16:271-275]. However, as a phenotypically normal child with normal intelligence and with deletion of 21q11.1-21q21.3 has also been identified [Korenberg et al., 1991, Hum Genet 87:112-118], this case suggests that the critical region of deletion for the 21q- phenotype lies distal to 21q21, within 21q22.1-22.2.

[Indexed for MEDLINE]

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