Elder F F, Ferguson J W, Lockhart L H
Hum Genet. 1984;67(2):233-6. doi: 10.1007/BF00273010.
An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the "critical region" in the production of this rare but distinctive phenotype.
在同卵双胞胎中发现了16号染色体长臂的间质缺失。这些患者在表型上与先前报道的16q缺失综合征病例极为相似，但在染色体方面有所不同，因为他们的缺失涉及16q12.2 - q13，而非16q21。我们提出，16q12.2 - q13是产生这种罕见但独特表型的“关键区域”。
