[48,XYYY核型的性染色体畸变。罕见性染色体非整倍体表型的病例报告]
[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].
作者信息
Stein A, Heilbronner H, Jungmann J
机构信息
Abteilung für Kinder- und Jugendpsychiatrie am Psychiatrischen Landeskrankenhaus Weinsberg.
出版信息
Z Kinder Jugendpsychiatr. 1994 Jun;22(2):130-4.
PMID:8053267
Abstract
This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance.
摘要
这是一篇关于一名19岁染色体核型为48，XYYY患者的病例报告。该患者表现出畸形、智力发育迟缓以及心理社会功能方面的问题。文献综述显示，具有这种核型的个体不仅在身体体征方面，而且在脑功能和认知表现方面都具有广泛多样的表型。
Zotero 插件