Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression [0.03%]
两个从头遗传改变引起的进行性严重自闭症：包括位于长程表观遗传调控区的LRFN5基因表达沉默的染色体平衡易位及2q31.1微缺失综合征
D R H de Bruijn,A H A van Dijk,R Pfundt et al.
D R H de Bruijn et al.
In a 19-year-old severely autistic and mentally retarded girl, a balanced de novo t(14;21)(q21.1;p11.2) translocation was found in addition to a de novo 2.6-Mb 2q31.1 deletion containing 15 protein-encoding genes. To investigate if the tran...
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally [0.03%]
12q24.31微缺失可模拟婴儿期贝克威斯-威德曼综合征
E Baple,R Palmer,R C M Hennekam
E Baple
We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued ov...
M van Kogelenberg,S Ghedia,G McGillivray et al.
M van Kogelenberg et al.
Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for 20-24% of instances but a majority have no identifiable gene...
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies [0.03%]
一种新的BBS12家族突变与轻型表型相关：对临床和分子诊断策略的启示
B Pawlik,A Mir,H Iqbal et al.
B Pawlik et al.
Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies, and hypogonadism. To date, 14 BBS genes, BBS1 to BBS14, have bee...
M Tartaglia,G Zampino,B D Gelb
M Tartaglia
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive defici...