PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY [0.03%]
土耳其单中心十年眼部和皮肤曲菌病及免疫缺陷综合征的诊治经验
T Patiroglu,H H Akar,E Unal et al.
T Patiroglu et al.
Background and aim: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndro...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):67-76. DOI: 2016
A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES [0.03%]
涉及11q14.1-q23.3区域的分子特征缺失以及一个具有多种先天畸形患者的案例研究
Z Cetin,O Altiok-Clark,S Yakut et al.
Z Cetin et al.
Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):51-66. DOI: 2016
22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS [0.03%]
13q31.1-q34区段缺失与HPE、DWM和HSCR相关：一例报道及重新定义最小致病缺失区域
M Y Alp,A H Çebi,S Seyhan et al.
M Y Alp et al.
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dan...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):43-9. DOI: 2016
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW [0.03%]
4p部分三体和13q部分单体的病例报告及文献复习
S Puvabanditsin,G Herrera-Garcia,N Gengel et al.
S Puvabanditsin et al.
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcepha...
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT [0.03%]
同一位患者合并出现由新颖的ASPM纯合子突变导致的小头畸形伴X-连锁鱼鳞病
M S Abdel-Hamid,M F Ismail,H A Darwish et al.
M S Abdel-Hamid et al.
Autosomal recessive primary microcephaly is a heterogeneous genetic disorder caused by genes that affect neurogenesis. This form of microcephaly has not been associated with other congenital anomalies. ASPM mutations have been identified as...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):25-33. DOI: 2016
CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY [0.03%]
WISKOTT-ALDRICH综合征的临床特点及遗传学分析——报告2种新突变并介绍ERCİYES大学（土耳其Kayseri）的经验
T Patiroglu,C Klein,H Eke Gungor et al.
T Patiroglu et al.
Aim: The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by micro-thrombocytopenia, eczema, and recurrent infections. We aimed to share our experience with six children with WAS, including two...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):9-24. DOI: 2016
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS [0.03%]
一例15号染色体完全缺失患者的临床及分子细胞遗传学表型分析
A Ece Solmaz,B Durmaz,M D Braekeleer et al.
A Ece Solmaz et al.
A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated 15q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, wh...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(1):1-8. DOI: 2016
PRENATAL ONSET DISSEMINATED RENAL VEIN THROMBOSIS EXTENDED INTO VENA CAVA IN A LATE PRETERM INFANT [0.03%]
晚孕期起病的肾静脉及下腔静脉血栓形成一例晚产儿
S Aktas,C Turkyilmaz,S Unal et al.
S Aktas et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):471-4. DOI: 2015
S Tasdemir,H B Erdem,I Sahin et al.
S Tasdemir et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):467-70. DOI: 2015
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE [0.03%]
一名合并Gaucher病的Aspartylglucosaminuria患者的新突变
E Kiykim,T Zubarioglu,O Gorukmez et al.
E Kiykim et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):463-6. DOI: 2015