DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described...
DiGeorge异常(DiGeorge anomaly)即胸腺缺陷(thymic defects),曾称为DiGeorge综合征或先天性胸腺发育不良,是包括胸腺发育不良、低钙血症、先天性心脏病和面部畸形的一组疾病,分为完全性和部分性。在人群中的发病率约为1∶2000～1∶4000 [ 1 ]。其病因复杂,约85%的病例为散发病例,7%的病例有遗传背景 [ 2 ],呈...
内分泌学家Angelo DiGOorge在20世纪60年代报道了DiGorge综合征,病理学家RobertShprintzen博士在20世纪70年代报道了腭心面(velocardiofacial)综合征。1978年,日本一组心脏病学家称之为圆锥干异常面部(conotruncal anomaly face,CIAF)综合征。这些综合征在大多数患者中都有共同的基因缺陷,22号染色体11长臂(22qll)缺失...
Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation... ...
1978年,日本一组心脏病学家称之为圆锥干异常面部(conotruncal anomaly face,CIAF)综合征。这些综合征在大多数患者中都有共同的基因缺陷,22号染色体11长臂(22qll)缺失,因此“22qll缺失综合征”目前被通用[2,3]。 DiGorge综合征在男性和女性中均可发生。临床特点包括面容异常、先天性心脏病、胸腺缺如或发育不良(...
2、常面部(conotruncal anomaly face,CIAF)综合征。这些综合征在大多数患者中都有共同的基因缺陷,22号染色体11长臂(22qll)缺失,因此“22qll缺失综合征”目前被通用2,3。 DiGorge综合征在男性和女性中均可发生。临床特点包括面容异常、先天性心脏病、胸腺缺如或发育不良(伴有先天性免疫缺陷,增加对感染的易感染性...
We describe 2 cases of DiGeorge anomaly with bilateral renal agenesis-one, who also had hemivertebrae, in an infant of an insulin-dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anom...
3. Takao综合征(又称圆锥动脉干异常面容综合征,conotruncal anomaly face syndrome,OMIM 217095):由日本首先报告,DGS以婴儿期心脏表现为突出,该病因甲状旁腺发育不良引起的低钙血症、胸腺发育不良更为突出。 4. CATCH22:以22q11缺失...
1978年,日本一组心脏病学家称之为圆锥干异常面部(conotruncal anomaly face,CIAF)综合征。这些综合征在大多数患者中都有共同的基因缺陷,22号染色体11长臂(22qll)缺失,因此“22qll缺失综合征”目前被通用[2,3]。 DiGorge综合征在男性和女性中均可发生。临床特点包括面容异常、先天性心脏病、胸腺缺如或发育不良(...
Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants 2007, Blood Citation Excerpt : This was done by a clinical molecular laboratory using multiplex polymerase chain reaction amplification for microsatellite markers with...