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Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome.

作者信息

de France H F, Beemer F A, Senders R C, Schaminée-Main S C

出版信息

Clin Genet. 1985 Jan;27(1):92-6. doi: 10.1111/j.1399-0004.1985.tb00190.x.

DOI:10.1111/j.1399-0004.1985.tb00190.x
PMID:3978842
Abstract

The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.

摘要

相似文献

1
Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome.
Clin Genet. 1985 Jan;27(1):92-6. doi: 10.1111/j.1399-0004.1985.tb00190.x.
2
[Extreme tissue mosaicism in trisomy 8 syndrome. Trisomy 8 in fibroblasts and normal karyotype in lymphocytes].
Klin Padiatr. 1983 Sep-Oct;195(5):365-8. doi: 10.1055/s-2008-1034400.
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Trisomy 8 mosaicism syndrome. Report of monozygotic twins.
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Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review.伴有正常血液染色体的22号染色体三体嵌合体。病例报告并文献复习。
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Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.伴有皮肤表现的10号染色体部分三体镶嵌现象:1例报告及文献复习
Clin Genet. 1996 Nov;50(5):417-21. doi: 10.1111/j.1399-0004.1996.tb02399.x.
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Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.一名畸形男孩的9号染色体镶嵌三体性和臂间倒位
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Trisomy 8 mosaicism. A case report and a proposed list of the clinical features.
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Mosaicism and the trisomy 8 syndrome.嵌合体与8号染色体三体综合征
Clin Genet. 1978 Aug;14(2):105-14. doi: 10.1111/j.1399-0004.1978.tb02114.x.
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Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence.18三体嵌合体,外周血淋巴细胞完全三体,智力正常。
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Dermatoglyphics in trisomy 8 mosaicism.8号染色体三体嵌合体的皮纹学
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引用本文的文献

1
Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.新发扩增导致的部分10号染色体长臂末端三体:一例手指和手掌无沟纹或嵴纹的新病例。
Rep Biochem Mol Biol. 2013 Apr;1(2):87-90.
2
Renal and urinary tract abnormalities associated with chromosome aberrations.与染色体畸变相关的肾脏和泌尿道异常。
Int J Pediatr Nephrol. 1987 Oct-Dec;8(4):215-26.
3
Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.基因丰富的染色体区域与常染色体三体性。一例3号染色体三体性嵌合体病例。
Hum Genet. 1987 Nov;77(3):214-20. doi: 10.1007/BF00284472.