CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33 [0.03%]
de novo染色体12q23.1q24.33三体的临床报道
B B Geckinli,H Aydin,A Karaman et al.
B B Geckinli et al.
We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported isolated cases of duplications of the 12q23q24 region, such as growth retardation, neuro...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):393-400. DOI: 2015
A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE [0.03%]
MECP2基因新型非同一突变的Rett综合征病例报告
O Güngör,S Kirik,D Cevizli et al.
O Güngör et al.
The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is bas...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):387-92. DOI: 2015
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE [0.03%]
巨脑症、多小叶回症、多指（趾）畸形和脑积水(MPPH)综合征：一例枕部脑膜脑膨出和唇裂患者的新报告
N Demir,E Peker,Gülşen I et al.
N Demir et al.
The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and fa...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):381-5. DOI: 2015
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME [0.03%]
与Ellis-van Creveld综合征相关联的新的肾结石突变基因变异案例研究报告
A Kiraz,M A Akin,A Arslan et al.
A Kiraz et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):377-9. DOI: 2015
O Demirci,T Yavuz,R Arisoy et al.
O Demirci et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):373-6. DOI: 2015
CLINICAL FEATURES OF A CASE WITH 46,XX,del(18)(p11.1p11.3) [0.03%]
一例46,XX,del(18)(p11.1p11.3)临床表型分析
F Mahjoubi,F Razazian,R Torabi
F Mahjoubi
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):369-72. DOI: 2015
E Erdogdu,R Arisoy,M A Yuksel et al.
E Erdogdu et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):365-8. DOI: 2015
CYCLOPIA AND OTHER DEFECTS IN A FETUS WITH UNIQUE CHROMOSOMAL REARRANGEMENT [0.03%]
cyclopia及其他畸形的发生与染色体的独特易位相关性研究
E I Golovataya,O V Pribushenya,E G Trebka et al.
E I Golovataya et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):359-64. DOI: 2015
Ö N Atan Şahın,T Atık,F Özkinay
Ö N Atan Şahın
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):353-7. DOI: 2015
A PATIENT WITH AZOOSPERMIA AND 45,X/46,X,r(Y) (p11.2q11.2) MOSAICISM WITHOUT AZF DELETIONS [0.03%]
AZF染色体未缺失的无精子症伴45,X/46,X,r(Y)(p11.2q11.2)嵌合体患者
O Altiok Clark,I Türker Köksal,S Berker Karaüzüm et al.
O Altiok Clark et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):347-51. DOI: 2015