EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION [0.03%]
单侧基底节钙化成人患者的短体型表型扩展
V M Salinas-Torres,E A De La O-Expinoza,R A Salinas-Torres
V M Salinas-Torres
SHORT syndrome is a rare autosomal dominant disorder whose acronym stands for short stature, hyperextensibility of joints and/or hernias, ocular depression, Rieger anomaly, and teething delay. Common clinical features include intrauterine a...
E Tug,M A Ergun,E F Percin
E Tug
Rett syndrome (RTT) and Angelman syndrome (AS) are devastating neurological disorders that participate in overlapping clinical features with autism spectrum disorders (ASDs). It has been reported that in addition to common mutations or dele...
EVALUATION OF PREIMPLANTATION GENETIC ANEUPLOIDY SCREENING CASES AT A REFERENCE GENETICS CENTER: 10 YEARS' EXPERIENCE [0.03%]
一项参考遗传学中心的卵裂期胚胎遗传学筛查10年经验总结报告
B Durmaz,E Karaca,E N Tavmergen Goker et al.
B Durmaz et al.
The aim of this study is to review and evaluate our preimplantation genetic screening (PGS) records in terms of their demographic data, indications, cytogenetic results, pregnancy outcomes and discuss these findings in different aspects. PG...
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY [0.03%]
用于地贫家系诊断和携带者筛查的多重连接探针扩增技术评估研究
S Salian,S A Vahab,H Shah et al.
S Salian et al.
We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Fifty three Indian families with provisional diagnosis of Duchene muscular dys...
DOUBLE TRISOMY MOSAICISM 48,XXX,+8/46,XX IN A FEMALE: THE FIRST REPORTED CASE [0.03%]
48,XXX,+8/46,XX染色体镶嵌体双三体综合征一例报告
A Attig,L Ben Jemaa,L Kraoua et al.
A Attig et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):441-446. DOI: 2016
OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION [0.03%]
突变GJA1导致的 Tunisia 家族视牙肢畸形症患者
A Attig,M Trabelsi,S Hizem et al.
A Attig et al.
E Tug,M Yirmibes Karaoguz,A Bakir
E Tug
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):429-431. DOI: 2016
A VERY RARE CAUSE OF APNEA IN THE NEONATAL PERIOD: JOUBERT SYNDROME [0.03%]
新生儿期呼吸暂停的罕见原因：乔布赖特综合征报告一例
G Demirel,A Yilmaz,B Vatansever et al.
G Demirel et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):425-428. DOI: 2016
SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS [0.03%]
一名患有轻度神经异常的女性患者严重脑积水、肾脏和骨骼畸形病例报告
A J L Brambila-Tapia,T Wegman-Ostrosky,D Garcia-Cruz et al.
A J L Brambila-Tapia et al.
The appearance of untreated severe hydrocephalus with long-term survival is infrequent; here we report a case with these characteristics, mild neurological alterations and kidney and skeletal anomalies. A female patient showed severe hydroc...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):419-423. DOI: 2016
THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME [0.03%]
土耳其EIF2AK3基因W522X突变：一例Wolcott-Rallison综合征新患者
T Bahsi,A Unal,A Bakir et al.
T Bahsi et al.
Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infan...