A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome [0.03%]
土耳其Vohwinkel综合征患者的Connexin 26(Gjb2)基因缺失突变
S Ozturk,I Can,B Eser et al.
S Ozturk et al.
Vohwinkel syndrome (VS), also known as keratoderma hereditaria mutilans, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of sensorineural deafness. Its mode of i...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):187-91. DOI: 2016
I W Lurie,I V Novikova,O A Tarletskaya et al.
I W Lurie et al.
We present a fetus with typical manifestations of distal monosomy 13q (oligodactyly, heart defect, anal atresia, hypoplastic kidneys) and der( 13)t( 1 ; 13)(q42;q21)pat. He also had exencephaly which at this developmental stage is an embryo...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):177-86. DOI: 2016
Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review [0.03%]
中枢神经系统异常和精神运动迟缓的女性患者的14q12→q21.2缺失15.4 MB和18p11.23缺失550 KB：微阵列界定不平衡染色体重组并回顾文献
D Torun,M Arslan,H Akar et al.
D Torun et al.
This paper describes the presence of a 15.4 Mb deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t( 14; 18) (ql2; pi 11)]. The patient had develo...
Meirer-Gorlin Syndrome: A Primordial Dwarfic Rare Case with Growth and Mental Retardation in Normal Karyotype [0.03%]
Meier-Gorlin综合征：正常染色体纯合子状态下的原发性侏儒罕见病例伴有生长和智力障碍
B Paksoy,F Silan,O Yildiz et al.
B Paksoy et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):159-63. DOI: 2016
Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review [0.03%]
骨颅脾综合征-头骨低矿化伴纤细长骨和脾发育不全：一例报道及文献复习
S Puvabanditsin,M February,V D Stefano et al.
S Puvabanditsin et al.
Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia character...
A RARE COMBINATION OF 45,X/46,XY MOSAICISM AND Y CHROMOSOME MICRODELETION IN AN INFERTILE MAN WITH AZOOSPERMIA [0.03%]
嵌合型特纳综合征伴Y染色体微缺失的无精子症男性不孕病例报告
H Aydemir,M Karkucak,H I Cimen et al.
H Aydemir et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):95-8. DOI: 2016
AXILLARY ARTERY THROMBOSIS IN A NEWBORN HOMOZYGOUS FOR METHYLENETETRAHYDROFOLATE REDUCTASE (A1298C) MUTATION AND HETEROZYGOUS FOR FACTOR V LEIDEN (G506A) MUTATION [0.03%]
甲基四氢叶酸还原酶(A1298C)突变纯合子和活化蛋白V( G506A)突变杂合子新生儿腋动脉血栓形成
D Dilli,N Fettah,H G Çinar et al.
D Dilli et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):87-9. DOI: 2016
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE [0.03%]
伴腭裂的Ⅰ号染色体部分内倒位（q11，q21.3）低磷酸酶症一例报告
O Giray Bozkaya,B Iscan,O Aksel et al.
O Giray Bozkaya et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):83-6. DOI: 2016
OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS [0.03%]
眼表皮综合征1例报告伴有巨细胞肉芽肿和非骨化纤维瘤
S Mermer,G Kayhan,E Karacelebi et al.
S Mermer et al.
Oculoectodermal syndrome (OES) is a very rare disorder with an unknown etiology and characterized by aplasia cutis congenita, epibulbar dermoid and hyperpigmentation areas on the skin. To the best of our knowledge, two cases of OES have bee...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):77-81. DOI: 2016