PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA [0.03%]
胎儿桡骨ochondrodyplasia punctata的产前诊断
E Erdogdu,N Dilek,R Arisoy et al.
E Erdogdu et al.
DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION? [0.03%]
一个涉及2号染色体部分缺失和倒位的结构异常杂合体来源于生殖系染色体内含子互换插入吗？
H Rivera,M G Domínguez
H Rivera
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(4):529-531. DOI: 2016
S Candan,G Yesil,E Sen Dalkiran et al.
S Candan et al.
Polydactyly is among comnion extremity abnormalities. Mutations of GLI3 gene have been reported commonly in Greig Cephalopolysyndactyly Syndrome (GCPS) and Pallister-Hall Syndrome (PHS). We have determined two different mutations of GLI3 ge...
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD [0.03%]
一个携带FGFR3 P.R248C突变的I型致死性骨发育不良病例并存活至新生儿期以后
S Sahin,H Ograg,E Atas Aslan et al.
S Sahin et al.
A Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to respiratory insufficiency. The diagnosis of TD is typically suspected on ultrasound during the second...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(4):513-517. DOI: 2016
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION [0.03%]
与BCS1L基因突变相关的呈拜尔诺斯塔德表型的早发性粒红祖细胞生成障碍综合征新生儿病例报告
H Akduman,T Eminoglu,E Okulu et al.
H Akduman et al.
GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(4):509-512. DOI: 2016
MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW [0.03%]
17号染色体短臂微重复[DUP（17）（12P11.2）]：一名伴有脊柱裂和心脏畸形的新生儿及文献复习报告
S Puvabanditsin,S Gueye-Ndiaye,V Puthenpura et al.
S Puvabanditsin et al.
Duplication 17pll.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p11.2 syndrome harbor a common 3.7 Mb duplication (17p.11.2 duplication syndrome) resul...
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE [0.03%]
TAZ基因的新突变导致巴尔特综合征兄妹症候群
D M Avdjieva-Tzavella,A P Todorova,Kathom H M et al.
D M Avdjieva-Tzavella et al.
Barth syndrome (BTHS) is an X-linked recessive disease caused by mutations in tafazzin gene (TAZ) which lead to cardiolipin deficiency and mitochondrial dysfunction. Male patients have variable clinical findings, including cardiomyopathy, s...
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION [0.03%]
PANK2基因(p.Glu322Asp，c.966G>T)变异在一个异染颗粒病家系中的临床效应分析
Z Ozozen Ayas,M Karkucak,R Oncel Ocal et al.
Z Ozozen Ayas et al.
Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene. Many different mutations in the PANK2 gene have been detected in association with ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(4):489-494. DOI: 2016
A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME [0.03%]
15三体综合症与特纳综合症相关的限制性胎盘嵌合病例报告
C Ekici,Y Sahin,K O Yaykasli et al.
C Ekici et al.
We here present a rare case of a Turner syndrome with mosaic trisomy 15 identified on chorionic villous sampling (CVS). Although there are several reports in the literature indicating confined placental mosaicism (CPM), counseling parents o...