Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

被引：0

作者：

Bai-Lin Wu

Richard G. Boles

Hana Yaari

Stanislawa Weremowicz

Gretchen H. Schneider

B. R. Korf

机构：

[1] Division of Genetics,

[2] Children’s Hospital and Harvard Medical School,undefined

[3] 300 Longwood Avenue,undefined

[4] Boston,undefined

[5] MA 02115,undefined

[6] USA Tel.: +1 617 355-7583; Fax: +1 617 355-7588,undefined

[7] Department of Pediatrics,undefined

[8] Children’s Hospital and Harvard Medical School,undefined

[9] Boston,undefined

[10] MA 02115,undefined

[11] USA,undefined

[12] Division of Medical Genetics,undefined

[13] Children’s Hospital,undefined

[14] Los Angeles,undefined

[15] CA 90027,undefined

[16] USA,undefined

[17] Department of Pediatrics,undefined

[18] University of Southern California School of Medicine,undefined

[19] Los Angeles,undefined

[20] CA 90027,undefined

[21] USA,undefined

[22] Department of Pathology,undefined

[23] Brigham and Women’s Hospital,undefined

[24] Boston,undefined

[25] MA 02115,undefined

[26] USA,undefined

[27] Department of Neurology,undefined

[28] Children’s Hospital and Harvard Medical School,undefined

[29] Boston,undefined

[30] MA 02115,undefined

[31] USA,undefined

来源：

Human Genetics | 1997年 / 99卷

关键词：

Peripheral Blood Lymphocyte; Gene Deletion; Skin Fibroblast; Neurofibromatosis; Neurofibroma;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-au-lait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. The deletion was demonstrated with intragenic cosmid probes as well as YACs spanning a 700-kb contig including NF1, by two-color FISH with an NF1 and a control probe. Using different intragenic probes, deletion was found in 77–84% of cultured peripheral blood lymphocytes but not in cultured skin fibroblasts. Neither parent has signs of neurofibromatosis type 1 (NF1) or a gene deletion. This is the first report of mosaicism for complete deletion of the NF1 gene. The child did not have typical NF1 or display segmental features of NF1.

引用

页码：209 / 213

页数：4

共 50 条

[1] Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
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