X连锁α地中海贫血/智力发育迟缓：三名相关男性的临床特征谱
X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
作者信息
Wilkie A O, Gibbons R J, Higgs D R, Pembrey M E
机构信息
Unit of Clinical Genetics and Fetal Medicine, The Hospitals for Sick Children, London.
出版信息
J Med Genet. 1991 Nov;28(11):738-41. doi: 10.1136/jmg.28.11.738.
Abstract
We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.
摘要
我们描述了三名患有X连锁α地中海贫血/智力迟钝（ATR-X）综合征的男性（两兄弟和一个堂兄弟）。最初因面部畸形特征与先前病例相似而在两兄弟中怀疑患有该综合征，在存活的兄弟中通过血液学检查得以确诊。该堂兄弟的面部畸形不太典型，常规血常规基本正常，但在他的红细胞中发现了血红蛋白H包涵体，表明他患有同样的疾病。本报告扩展了ATR-X综合征的临床表型，并强调血常规正常并不能排除该诊断。
相似文献
1
X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.X连锁α地中海贫血/智力发育迟缓：三名相关男性的临床特征谱
J Med Genet. 1991 Nov;28(11):738-41. doi: 10.1136/jmg.28.11.738.
2
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.非缺失型α地中海贫血/智力发育迟缓综合征：对X连锁的进一步支持。
J Med Genet. 1991 Nov;28(11):742-5. doi: 10.1136/jmg.28.11.742.
3
Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.α地中海贫血/智力发育迟缓综合征（非缺失型）：一个支持X连锁遗传的家系报告
J Med Genet. 1991 Nov;28(11):734-7. doi: 10.1136/jmg.28.11.734.
4
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.一种与α地中海贫血相关的新定义的X连锁智力发育迟缓综合征。
J Med Genet. 1991 Nov;28(11):729-33. doi: 10.1136/jmg.28.11.729.
5
Alpha thalassaemia mental retardation (ATR-X): an atypical family.α地中海贫血智力发育迟缓综合征（ATR-X）：一个非典型家庭。
Arch Dis Child. 1994 May;70(5):439-40. doi: 10.1136/adc.70.5.439.
6
X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.X连锁α地中海贫血/智力发育迟缓（ATR-X）综合征
J Med Genet. 1992 May;29(5):357. doi: 10.1136/jmg.29.5.357.
7
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.非缺失型α地中海贫血/智力发育迟缓：一种可识别的具有X连锁遗传的畸形综合征。
J Med Genet. 1991 Oct;28(10):724. doi: 10.1136/jmg.28.10.724.
8
X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.伴有非缺失型α地中海贫血的X连锁智力迟钝（ATR-X）：对表型的进一步描述。
J Med Genet. 1994 Mar;31(3):245-7. doi: 10.1136/jmg.31.3.245.
9
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).日本X连锁α地中海贫血/智力发育迟缓综合征（ATR-X）患者的分子遗传学研究。
Am J Med Genet. 2000 Sep 18;94(3):242-8.
10
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.ATR-X基因中的剪接突变可导致无α地中海贫血的畸形智力发育迟缓表型。
Am J Hum Genet. 1996 Mar;58(3):499-505.
引用本文的文献
1
Y chromosome damage underlies testicular abnormalities in ATR-X syndrome.Y染色体损伤是ATR-X综合征睾丸异常的根本原因。
iScience. 2024 Mar 28;27(5):109629. doi: 10.1016/j.isci.2024.109629. eCollection 2024 May 17.
2
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.17 例 ATR-X 综合征意大利患者的表型谱和分子发现：一些新见解。
Genes (Basel). 2022 Oct 4;13(10):1792. doi: 10.3390/genes13101792.
3
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.一种新型外显子 ATRX 突变，具有向后代优先传递的特性：病例报告及文献复习ATRX 家系中传递率偏倚。
Mol Med Rep. 2020 Dec;22(6):4561-4566. doi: 10.3892/mmr.2020.11574. Epub 2020 Oct 9.
4
Alpha-thalassaemia.阿尔法-地中海贫血症。
Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13.
5
Refinement of the genetic cause of ATR-16.ATR-16基因病因的细化
Hum Genet. 2007 Nov;122(3-4):283-92. doi: 10.1007/s00439-007-0399-y. Epub 2007 Jun 28.
6
Angelman syndrome: a review of the clinical and genetic aspects.安吉尔曼综合征：临床与遗传学方面综述
J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87.
7
X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.伴有非缺失型α地中海贫血的X连锁智力迟钝（ATR-X）：对表型的进一步描述。
J Med Genet. 1994 Mar;31(3):245-7. doi: 10.1136/jmg.31.3.245.
8
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.一种与α地中海贫血相关的新定义的X连锁智力发育迟缓综合征。
J Med Genet. 1991 Nov;28(11):729-33. doi: 10.1136/jmg.28.11.729.
9
X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.X连锁α地中海贫血/智力发育迟缓（ATR-X）综合征
J Med Genet. 1992 May;29(5):357. doi: 10.1136/jmg.29.5.357.
本文引用的文献
1
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.不明综合征。一种可能的新的X连锁智力发育迟缓综合征：面部畸形、小头畸形、肌张力减退和小生殖器。
J Med Genet. 1990 May;27(5):339-40. doi: 10.1136/jmg.27.5.339.
2
3
Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.一名澳大利亚男性中α地中海贫血-智力发育迟缓综合征（非缺失型）的出现。
J Med Genet. 1990 Sep;27(9):577-81. doi: 10.1136/jmg.27.9.577.
4
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.非缺失型α地中海贫血/智力发育迟缓：一种可识别的具有X连锁遗传的畸形综合征。
J Med Genet. 1991 Oct;28(10):724. doi: 10.1136/jmg.28.10.724.
5
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.一种与α地中海贫血相关的新定义的X连锁智力发育迟缓综合征。
J Med Genet. 1991 Nov;28(11):729-33. doi: 10.1136/jmg.28.11.729.
Zotero 插件