Parental mosaicism as a cause of Down syndrome. A report of 46,XX/46,XX,--21,+t(21q21q1 mother and 46,XY,+21,+t(21q21q) child.

Suppr

超能文献

作者信息

Priest J H, Brantley K E, Blackston R D

出版信息

J Pediatr. 1977 May;90(5):786-8. doi: 10.1016/s0022-3476(77)81252-3.

DOI:10.1016/s0022-3476(77)81252-3

PMID:140223

Abstract

摘要

相似文献

Parental mosaicism as a cause of Down syndrome. A report of 46,XX/46,XX,--21,+t(21q21q1 mother and 46,XY,+21,+t(21q21q) child.

J Pediatr. 1977 May;90(5):786-8. doi: 10.1016/s0022-3476(77)81252-3.

Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).唐氏综合征与两个罗伯逊易位相关，核型为45,XX,-15,-21, + t(15q21q)和46,XX,-21, + t(21q21q) 。

J Med Genet. 1974 Sep;11(3):306-9. doi: 10.1136/jmg.11.3.306.

Structural chromosome abnormalities in Down syndrome: a study of two families.

Cytogenet Cell Genet. 1978;20(1-6):185-93. doi: 10.1159/000130850.

Parental mosaicism in de novo translocation (21q21q) Down's syndrome.新发易位型（21q21q）唐氏综合征中的亲代嵌合体现象。

J Med Genet. 1991 Jul;28(7):502. doi: 10.1136/jmg.28.7.502.

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome.

Ann Genet. 1982;25(1):56-8.

Reproduction in a woman with low percentage t(21q21q) mosaicism.一名具有低比例t(21q21q)嵌合体病例的女性的生育情况。

J Med Genet. 1977 Jun;14(3):221-3. doi: 10.1136/jmg.14.3.221.

A case of atypical Down's syndrome with mosaic 46,XX/46,XX-21+t(21q21q).

Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):77-81. doi: 10.1111/j.1399-0004.1976.tb00016.x.

[Complete Down's syndrome in a boy, formed by chromosomic mosaicism 46-XY isochromosome 21 and 47-XY, trisomy 21 with mosaicism of the mother 46-XX and 47-XX, trisomy 21)].一名患有完全型唐氏综合征的男孩，由染色体镶嵌现象形成，即46,XY，21号等臂染色体和47,XY，21号三体，其母亲存在46,XX和47,XX，21号三体的镶嵌现象。

Sangre (Barc). 1967;12(1):71-80.

Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism.一名患有47,XX,+21/46,XX嵌合体和XX/XY嵌合体胎儿的产前诊断与基因分析

J Formos Med Assoc. 2006 Aug;105(8):659-63. doi: 10.1016/S0929-6646(09)60165-0.

An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.一例罕见的嵌合型唐氏综合征病例，涉及两种不同的罗伯逊易位。

J Med Genet. 1989 Mar;26(3):198-201. doi: 10.1136/jmg.26.3.198.

引用本文的文献

A somatic origin of homologous Robertsonian translocations and isochromosomes.同源罗伯逊易位和等臂染色体的体细胞起源。

Am J Hum Genet. 1994 Feb;54(2):290-302.

Trisomy 21 mosaicism in two successive generations in a family.一个家族中连续两代出现21三体嵌合体。

J Med Genet. 1980 Feb;17(1):48-9. doi: 10.1136/jmg.17.1.48.

Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome.一个连续两代出现21三体嵌合体导致唐氏综合征的家族的细胞遗传学研究。

Hum Genet. 1982;60(2):202-4. doi: 10.1007/BF00569714.

Molecular evidence for true isochromosome 21q.真正的21号染色体长臂等臂染色体的分子证据。

Hum Genet. 1988 Dec;81(1):1-3. doi: 10.1007/BF00283718.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验