A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report [0.03%]
EIF2B4基因罕见突变引起的范科尼贫血样白质营养不良表型一例报告
O Gungor,A K Ozkaya,T Hirfanoglu et al.
O Gungor et al.
A 12-month old boy presented with intractable seizures present since 3-month of age. He had, previously, been admitted numerous times to the pediatric emergency room for intractable and prolonged seizures during the course of his disease. D...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):41-6. DOI: 2015
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome [0.03%]
一位具有乔布雷特综合征婴儿视盘玻璃膜疣似视盘水肿
S Yilmaz,E Demirkilinc Biler,A Ece Solmaz et al.
S Yilmaz et al.
Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis. Various ocular and oculomotor findings are frequently seen in cases with Joubert Syndrome. However, only three ad...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):35-9. DOI: 2015
S Sahinturk,S Ozemri Sag,M Ture et al.
S Sahinturk et al.
Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, w...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):29-34. DOI: 2015
A novel mutation in the FRAS1 gene in a patient with Fraser syndrome [0.03%]
FRAS1新突变导致的 Fraser综合征病例报告
S Ozemri Sag,O Gorukmez,O Gorukmez et al.
S Ozemri Sag et al.
Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):21-7. DOI: 2015
Micronucleus assay as a biomarker for chromosome malsegregation in young mothers with Down syndrome children [0.03%]
微核试验作为年轻唐氏综合征患儿母亲染色体分离异常的生物标志物
S Abdel Hady,H H Afifi,E A Abdel Ghany et al.
S Abdel Hady et al.
The aim of the present study is to test the susceptibility of chromosome 21 malsegregation in young mothers of Down syndrome children using combined micronucleus (MN) assay and FISH analysis. The present study included 62 Egyptian young mot...
S Türkmen,S Şahin,N Koçer et al.
S Türkmen et al.
Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. This disorder is caused by mutations or deletions in NSD1 gene. The ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):1-12. DOI: 2015
H Aydemir,S Aydemir,T Bezgin et al.
H Aydemir et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2014;25(4):453-5. DOI: 2014
Giant cell tumor of distal phalanx in an adolescent with Goltz-Gorlin syndrome [0.03%]
戈尔茨-戈林综合征青少年远端指骨巨细胞瘤病例报告
A Borgers,S Peters,R Sciot et al.
A Borgers et al.
We report on a unique case of a young female patient with the Goltz-Gorlin syndrome who developed a giant cell tumor of bone in the distal phalanx of the thumb. This case is noteworthy because of the combination of some unusual features. Fi...
Case Reports
Genetic counseling (Geneva, Switzerland). 2014;25(4):445-51. DOI: 2014
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return [0.03%]
一名患有辛普森-戈拉比-贝赫梅尔综合征的男婴并发眉间头板早闭、肛门直肠畸形和肺静脉异位连接
N Demir,E Peker,I Ece et al.
N Demir et al.
Simpson-Golabi-Behmel syndrome is a clinical condition described by Simpson, characterized with multiple congenital anomalies and caused by Glypican 3 (GPC3) mutations of the X-linked gene. Typical findings such as overgrowth, hypoplastic c...
Case Reports
Genetic counseling (Geneva, Switzerland). 2014;25(4):439-43. DOI: 2014
A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization [0.03%]
因体外受精导致单亲二倍体型普瑞德威利症候群的双胞胎患者
T Atik,A Aykut,E Karaca et al.
T Atik et al.
The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprin...
Case Reports
Genetic counseling (Geneva, Switzerland). 2014;25(4):433-7. DOI: 2014