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Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature.

作者信息

Kaplan L C, Wayne A, Crowell S, Latt S A

出版信息

Am J Med Genet. 1986 Apr;23(4):925-30. doi: 10.1002/ajmg.1320230407.

DOI:10.1002/ajmg.1320230407
PMID:3515939
Abstract

We present the history and results of chromosome analysis of a liveborn male with mosaic trisomy 14 who was initially evaluated for a congenital heart defect. His chromosome complement was 46,XY/47,XY,+14. The phenotype of the patient is similar in many respects to that of females previously reported with mosaic trisomy 14, whereas the patient's micropenis and cryptorchidism are consistent with findings in males with dup(14q).

摘要

相似文献

1
Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature.
Am J Med Genet. 1986 Apr;23(4):925-30. doi: 10.1002/ajmg.1320230407.
2
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引用本文的文献

1
Complete trisomy 14 mosaicism: first live-born case in Korea.14号染色体完全三体嵌合体:韩国首例活产病例。
Korean J Pediatr. 2012 Oct;55(10):393-6. doi: 10.3345/kjp.2012.55.10.393. Epub 2012 Oct 29.
2
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.