Silver-Russell综合征病例报道一例并文献复习

目的通过报道罕见的Silver-Russell综合征病例1例,并文献复习,了解该疾病的研究进展。方法对1例Silver-Russell综合征患儿的临床表现、实验室检查进行观察与分析并复习相关文献。结果确诊Silver-Russell综合征1例。结论 Silver-Russell综合征临床极少见,临床有遇到（1）宫内及生后生长发育迟缓;（2）典型面部特征：相对巨颅、三角脸等;（3）躯体不对称畸形;（4）喂养困难的患儿应警惕本病可能。本疾病临床表现非特异性,临床诊断困难,对高度可疑本病的患儿应行基因检查,一旦确诊应尽早采取重组人生长激素（GH）替代治疗等综合治疗,以改善患儿生存质量。     

Miller-Dieker综合征:脑回发育不全和17p单体

Miller Dicker综合征包括脑回发育不全、小头及其它特殊外貌。其遗传方式为常染色体隐性。本综合征尚无统一的诊断标准。作者提出诊断本综合征必须具备以下几点:小头,CT显示脑回发育不全和额叶、颞叶被盖缺乏,极度智力低下伴癫痫和肌张力异常,鼻孔前翻,耳异常,小下颌及严重的生长迟缓。本文报告了三个病例,均符合上述诊断标准。并采用了高分辨染色体显带技术,进行了细胞遗传学检查。其中,例2染色体正常,核型为46,XX。例1和例3均有     

Bloom综合征的细胞遗传学

Bloom综合征(以下简称BS),与其它的染色体断裂综合征不同,它具有独特的同源染色体之间片段交换增加的倾向。这反映有丝分裂交叉和姐妹染色单体互换发生率增高。至于减数分裂中的交换是否增加,仍不清楚。BS为常染色体隐性遗传。主要症状为:出生体重低,生长发育迟缓,阳光敏感性红斑和免疫缺陷。这种罕见的疾病引起了人们极大兴趣,原因之一是在于本病的纯合子有肿瘤的高发风险,约有四分之一的BS病人在生命早期即发生恶性肿瘤。     

70例矮身材少年儿童染色体分析

自1992年初至1994年7月我院遗传室与利群医院合作，共同对遗传门诊及矮身材门诊的70例身材矮小的女性少年儿童进行外周血淋巴细胞培养和染色体核型分析。共检出染色体核型异常者44例。占受检者的63％。且绝大部分为性染色体的异常。虽然临床表现相似，但核型复杂，有X单体、等臂X、嵌台型、环状X、和带有mar染色体等，均属Turner综合征的范畴。说明身体矮小与性染色体有密切相关关系。     

心脏病的遗传

本文论述了孟德尔式、染色体及多基因三种主要遗传学原则,列举有心脏病表现的遗传性综合征及介绍遗传咨询过程,以期帮助心脏病学家能在医学实践中运用遗传学的概念。孟德尔式遗传孟德尔式遗传包括常染色体显性遗传、常染色体隐性遗传及X连锁隐性遗传三个类型。常染色体显性遗传如果一个病人只需一个致病基因就可致     

青年特发性血色病的遗传

婴而再次就诊。第二个女婴的核型与第一个完全相同。该家庭的另外三个成员均具有一个小染色体(47,+mar),但他们的表现型都正常。对于其他成员的核型未能进行检查。但已确知,该家庭中一成员精神发育迟缓。为了识别额外小染色体,我们进行了C、G显带法和NOR银染(按照 Varley1977年改进的方法)。发现额外小染色体具有中央着丝粒,比G组小。在前中期可清楚地见到两个靠的很近的带。小染色体的两端均有随体和副缢痕,且都和近端着丝粒染色体以随体形成关联。关于小染色体的来源,我们认为可能来自近端着丝粒染色体。具体地说,可能是近端着丝粒染色体的长臂断裂、丢失所致。然而,不同的近端着丝粒染色体之间的罗伯逊易位的可能性也不能排除。至于小染色体和Down氏综合征之间的关联,可能是个染色体影响了减数分裂的正常机制而导致染色体的不分离。由于额外小染色体缺乏表现型效应,它可能属于遗传中间状态(Genetic Neutr-ality)。 (Ramos C et al:Hum Genet 49(1):7 1979(英文)杨爱生摘张贵寅校]036 青年特发性血色病的遗传本文复习了文献报导的特发性血色病(IH)有关的患者52冽,年龄30岁以下,并报导1例26岁的女性患者,有心力衰竭,胰岛素依赖性糖尿病、肝肿大和继发性闭经。典型的特发性血色病是年长男性的一种疾病。一般认为IH综合征是一种遗传性疾病。如果IH综合征确系单一的遗传病因,那末关于其遗传的方式尚无一致的意见。53例年轻患者中24例是从11个家族中来的。这些家庭中所有的患者均系亲属,包括4例近亲婚配。另一方面,53例患者中29例是具有IH临床表现的唯一的家庭成员。本文一例父母尿铁测定为3.1毫克和2.1毫克,提示父母体内有可移动的铁中等浓度的可能性。其血清铁和铁蛋白正常。鉴于IH年轻患者的观察,可假定该年龄组此综合征有两种可能的遗传方式:(1)常染色体隐性遗传,性别分布相等,同胞兄妹患病而其双亲无症状,以及同一家庭中有,近亲婚配均支持这一点;(2)常染色体显性遗传。在一个单一的基因位点上自发突变可能解释一个家族内临床上患者单独出现的原因。常染色体显性遗传的不同外显率是解释青年组临床病例散发的一个可能机制。患者父母体内铁轻度增加,但在文献报导的大多数其他青年患者中无类似评价。虽然显性遗传不能排除,但作者支持常染色体隐性遗传可能是该青年组患者的遗传机制。造成IH中铁贮积异常的原因还没有了解其基本缺陷,结论还需要临床观察有关铁过度负荷,家族或其他遗传标记中组织铁的定量测定。在这些限制因素中,可假定IH综合征有一个以上的遗传机制,而IH的年轻患者似乎代表了IH患者中遗传学独特的一组。 [Lamon JM et al:Gastroentero-logy 76(1):178,1979(英文)杨天权摘余泽瑗校]037 并指、短身材、骨骼畸形和附加睾丸:一个新的畸形综合征患者系西班牙犹太人,男性,17岁,有并指(双手近侧指间关节背面关节嵴缺如,但没有指蹼,手近侧指间关节屈曲无能),身材矮(高146厘米,臂距139厘米),多发性骨骼畸形(轻度的尖头,腰部脊柱侧凸,第5腰椎畸形,髋外翻,手指第2、3、4和5指近侧指间关节部分溶合),和一个附加     

265例身材矮小儿童的染色体核型分析

目的对本地区生长身材矮小和发育迟缓的儿童进行染色体核型分析,探讨身材矮小及生长发育迟缓与染色体遗传疾病的关系。方法对2011年4月至2017年9月,对265例由于身材矮小和生长发育迟缓在我院就诊,行常规外周血淋巴细胞培养及G显带核型分析的结果进行回顾性研究分析。结果在265例身材矮小患儿中,共检出染色体异常38例,检出率为14.34%(38/265),其中Turner综合征25例,Downs综合征2例,相互易位核型2例,X染色体及其他结构异常3例,嵌合体6例。另检出染色体多态性17例,检出率为6.42%(17/265)。结论染色体异常与儿童身材矮小和生长发育迟缓紧密相关,其中Turner综合征及X染色体结构异常是导致受检儿童身材矮小与性腺发育异常的主要原因。为身材矮小儿童提供染色体核型分析,可为临床的诊断和治疗提供科学依据。     

Siogren-Larrson综合征的皮纹型

Sjogren-Larrson综合征是一种由遗传决定的综合征,常染色体隐性遗传,有三个主要征候:先天性鱼鳞病、痉挛性双肢/四肢麻痹和智力缺陷。已有报告本综合征病人具有皮纹型的改变如:变异猿线、双轴三叉及轴三叉远侧移位、atd角增大和小鱼际型发生率增加等。本文报告35例Sjogren-LarrsOn综合征     

发生在一个家系中的Wiedemann-Beckwith综合征和囱门持续不闭

Wiedemann-Beckwith综合征(脐疝—巨舌—巨大发育,简称E.M.G)患者可出现脐疝、巨舌以及巨大发育症状。在已报告的病例中17％合并耳垂裂缝样缺损、内脏巨型增生、偏侧肥大症,10％恶性肿瘤发病率较高。前囱门延迟闭合没有被提及。此外,除了脐突出和脐疝之外的中线缺损不是该综合征明显的症状。几个家系的病例已被报导,遗传起因是可能有的。有报告曾提出为常染色体隐性遗传,而其它报告则认为是     

二例Angelman综合征临床及脑电图分析

<正>快乐木偶综合征,为常染色体隐性遗传性疾病。临床表现主要是发育迟缓、颅面部异常、共济失调、阵发性发笑、癫痫发作等。本病的遗传机制主要是15号染色体长臂11区到13区缺失(15q11-13 deletion)。国外研究表明,Angelman综合征具有较为特征性的临床及脑电图改变,其中EEG为诊断Angelman综合征的一项敏感方法,常能在临床症状明显前及基因诊断前提示本病,从而有助于早期     

Short stature, brachydactyly, and Peters'' anomaly (Peters''-plus syndrome): confirmation of autosomal recessive inheritance.

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.     

New autosomal recessive faciodigitogenital syndrome.

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.     

A new syndrome of microtia with unilateral renal agenesis and short stature

We report on a 13-month-old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings did not match any previously described syndromes with the anomalies seen in the patient. We performed SNP array analysis to characterize the observation as a novel syndrome and this was normal. We propose that this represents a new syndrome, likely of autosomal recessive inheritance.     

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.     

The Aarskog syndrome in three brothers

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X-linked recessive or autosomal dominant, with limited expression in the female.     

Microcephaly-lymphedema syndrome: Report of a family with short stature as additional manifestation

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley-Liss, Inc.     

A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly

A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.     

A Noonan-like short stature syndrome with sparse hair.

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.     

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.     

Two sisters with Silver-Russell phenotype

Silver-Russell syndrome (SRS) is a well recognizable syndrome, but the etiology of SRS seems to be heterogeneous. SRS is listed in Mendelian Inheritance in Man as an autosomal dominant disorder because most described cases have been of sporadic occurrence, and most likely were caused by de novo autosomal dominant mutation, and because families with apparent dominant transmission of a SRS phenotype have been described. Still, in a few families, autosomal recessive inheritance has been suggested. We describe two sisters who meet the criteria for SRS proposed by Price et al. [1999]. The parents had normal facial features, normal height, and normal post-natal growth. This is the second well-documented case of familial recurrence of SRS that resembles an autosomal recessive inheritance pattern. Since sib recurrence is so rare in SRS, other modes of inheritance should be considered. The finding of maternal uniparental disomy 7 (mUPD7) in 10% of SRS cases suggests that lack of paternally expressed imprinted gene(s) or overexpression of maternal imprinted gene(s) on chromosome 7 cause SRS. The recurrence in sibs could be caused by a mutation in the imprinted gene or imprinting center carried by one parent. Alternatively, recurrence in sibs could represent germ line mosaicism for a dominant mutation in one of the parents.