遗传性肠神经纤维瘤病。2染色体12和14之间的易位。

Neurofibromatosis Pub Date : 1988-01-01

A Verhest, R Heimann, J Verschraegen, E Vamos, F Hecht

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引用次数: 0

摘要

在肠神经纤维瘤病的家族成员中发现了易位，肠神经纤维瘤病是一种罕见的显性疾病，在表型上不同于冯recklinghausen神经纤维瘤病。易位在12号和14号染色体之间是互惠的。携带肠神经纤维瘤病基因的5个家族成员中有4个易位。这可能是由于肠道神经纤维瘤病基因与染色体带12q13和14q13中的易位断点之一的单独变化或连锁。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.

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Neurofibromatosis

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