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Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.

作者信息

McKenney R R, Elder F F, Garcia J, Northrup H

机构信息

Graduate School of Biomedical Sciences, University of Texas, Health Science Center, Houston 77030, USA.

出版信息

Am J Med Genet. 1996 Dec 30;66(4):449-52. doi: 10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U.

DOI:10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U
PMID:8989466
Abstract

We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS.

摘要

相似文献

1
Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.
Am J Med Genet. 1996 Dec 30;66(4):449-52. doi: 10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U.
2
Autosomal dominant inheritance of Brachmann-de Lange syndrome.
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Male-to-male transmission of mild Brachmann-de Lange syndrome.
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Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.布腊克曼-德朗热综合征：常染色体显性遗传的证据。
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Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature.家族性布腊克曼-德朗热综合征：常染色体显性遗传的进一步证据及文献综述
Am J Med Genet. 1993 Nov 15;47(7):1064-7. doi: 10.1002/ajmg.1320470726.
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Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?小头畸形、类布腊克曼-德朗热样面部改变、重度内收跖骨及发育迟缓综合征：轻度布腊克曼-德朗热综合征？
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Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome.常染色体显性遗传的布腊克曼-德朗热综合征仅通过母体传播。
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A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.一个经历广泛可变剪接的巨大新基因被3q26.3处与科妮莉亚·德朗格综合征相关的易位断点切断。
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Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.在一些科妮莉亚·德朗热综合征家族病例中排除与3号染色体q26.3区域CDL1基因的连锁关系。
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