de Die-Smulders C, Theunissen P, Schrander-Stumpel C, Frijns J P
Department of Clinical Genetics, Academical Hospital Maastricht, The Netherlands.
Clin Genet. 1992 Jan;41(1):42-5. doi: 10.1111/j.1399-0004.1992.tb03628.x.
A mother of normal intelligence and her moderately mentally retarded son, both with the typical facial features of the Brachmann-de Lange syndrome, are reported. We discuss the variable expression of the Brachmann-de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal dominant cases show milder symptoms in general. In our opinion, a de novo autosomal dominant mutation causes the severe form of the syndrome, recurrence within sibships being explained by germline mosaicism. In all convincingly autosomal dominant cases we found that the mother is the transmitting parent, suggesting genomic imprinting.
报告了一位智力正常的母亲及其中度智力发育迟缓的儿子，二人都具有典型的布腊克曼-德朗热综合征面部特征。我们通过比较常染色体显性病例与散发或推测的常染色体隐性病例，来探讨布腊克曼-德朗热综合征的可变表达。常染色体显性病例总体症状较轻。我们认为，新发的常染色体显性突变导致该综合征的严重形式，同胞间复发可由生殖系嵌合体来解释。在所有令人信服的常染色体显性病例中，我们发现母亲是传递亲本，提示存在基因组印记。
