De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism [0.03%]
新发易位(2;18)(q21;q22)致严重癫痫，发育迟缓和轻度畸胎一例报告
M Bal,C T Schrander-Stumpel,L E Meers et al.
M Bal et al.
De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, campto...
Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome [0.03%]
prenatal诊断喉部闭锁作为多种先天性异常(MCA)综合征的一部分
I Witters,P Moerman,J P Fryns
I Witters
Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome: In this report we present the prenatal second trimester echographic diagnosis of laryngeal atresia in a male fetus with multiple ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):215-9. DOI: 2000
Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome [0.03%]
普瑞德-威利精神病综合征和 velocardiofacial 精神病综合征
W M Verhoeven,S Tuinier,L M Curfs
W M Verhoeven
Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome: Similar to the studies on behavioural phenotypes, it is suggested to more rigorously promote the investigation of psychopathological phenotypes. The psychopathol...
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22 [0.03%]
22号染色体部分三体伴膈疝和Fryns表型
C de Beaufort,F Schneider,R Chafai et al.
C de Beaufort et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):181-2. DOI: 2000
Maternal pericentric inversion in the origin of an abnormal child due to a recombinant chromosome 1--implications for genetic counseling [0.03%]
母亲臂间倒位导致的重排染色体1异常儿的发生及其对遗传咨询的意义
M R Pinto,J Aguiar,C R Mota
M R Pinto
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):179-80. DOI: 2000
R Wu,E Legius
R Wu
An uncommon G375C substitution in a newborn with achondroplasia [0.03%]
一名新生儿的罕见G375C替代突变病例报告-伴软骨发育不全
M C Addor,F Gudinchet,A Truttmann et al.
M C Addor et al.
We report a G-to-T de novo transversion mutation causing the substitution of a glycine with a cysteine (G375C) in a newborn with achondroplasia. This rare observation confirms allelic heterogeneity.
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):169-74. DOI: 2000
Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance [0.03%]
osteopathia striata颅底骨硬化症的文献回顾表明该病为X染色体连锁遗传
C Behninger,H D Rott
C Behninger
Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear striations of tubular bones and fan-shaped configurations of the ilia. Although referred in literature as an autosomal dominant disorder the clinical pattern of p...
Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome? [0.03%]
鳃裂异常、先天性心脏病和胆道闭锁：Goldenhar复合征还是Lambert综合征？
J Cohen,N C Schanen
J Cohen
The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex con...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):153-6. DOI: 2000
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies [0.03%]
Lenz小眼症综合症：三例罕见相关畸形患者报告
S A Temtamy,S I Ismail,N A Meguid
S A Temtamy
Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment....
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):147-52. DOI: 2000