Brewer C M, Lam W W, Hayward C, Grace E, Maher E R, FitzPatrick D R
Human Genetics Unit, Western General Hospital, Edinburgh, UK.
J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162.
Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
对一名患有贝克威思-维德曼综合征（BWS）的女婴进行的分子遗传学研究显示，胰岛素样生长因子2（IGF2）印记缺失，但未发现单亲二体的证据。此外，在该婴儿中发现了18号染色体q22.1区域的缺失，但其并无18q综合征（小头畸形、身材矮小、肌张力减退）的临床特征。18号染色体缺失与BWS的关联可能是巧合，也可能表明存在一个维持IGF2印记的反式激活调节元件的位置。
