Theodoropoulos D S, Cowan J M, Elias E R, Cole C
Department of Pediatrics, New England Medical Center, Boston, Massachusetts, USA.
Am J Med Genet. 1995 Nov 6;59(2):161-3. doi: 10.1002/ajmg.1320590209.
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.
在一名21号染色体长臂22q22.1至qter区域存在缺失的新生儿中观察到多种异常。该婴儿的表型与先前描述的21号染色体长臂从着丝粒到21q22区域存在缺失的婴儿相似[Rethoré等人，1972年，《实验细胞研究》70:455 - 456；1973年，《巴黎人类遗传学》16:271 - 275]。然而，由于也已鉴定出一名表型正常、智力正常且存在21q11.1 - 21q21.3缺失的儿童[Korenberg等人，1991年，《人类遗传学》87:112 - 118]，该病例表明21q - 表型缺失的关键区域位于21q21远端，在21q22.1 - 22.2范围内。
