scholarly journals Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

2004 ◽  
Vol 74 (6) ◽  
pp. 1286-1293 ◽  
Author(s):  
Thomas Fernandez ◽  
Thomas Morgan ◽  
Nicole Davis ◽  
Ami Klin ◽  
Ashley Morris ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

scholarly journals Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

2008 ◽  
Vol 82 (6) ◽  
pp. 1385 ◽  
Author(s):  
Thomas Fernandez ◽  
Thomas Morgan ◽  
Nicole Davis ◽  
Ami Klin ◽  
Ashley Morris ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus

2014 ◽  
Vol 36 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Mari Saito ◽  
Takanori Yamagata ◽  
Ayumi Matsumoto ◽  
Yusuke Shiba ◽  
Masako Nagashima ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
Muscle Tonus ◽  
Sudden Loss

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

2016 ◽  
Vol 38 (2) ◽  
pp. 257-260
Author(s):  
Sato Suzuki-Muromoto ◽  
Naomi Hino-Fukuyo ◽  
Kazuhiro Haginoya ◽  
Atsuo Kikuchi ◽  
Hiroki Sato ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Cerebellar Hemangioblastoma ◽  
3P Deletion Syndrome

3p deletion syndrome: Implications for cochlear implantation

2012 ◽  
Vol 13 (4) ◽  
pp. 248-251
Author(s):  
Daniel H Coelho ◽  
Yula Taormina ◽  
Jaime Moore ◽  
Kelley Dodson ◽  
Aristides Sismanis
Keyword(s):  
Cochlear Implantation ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

A Child with 3p Deletion Syndrome Who Recovered from Influenza-Related Acute Respiratory Distress Syndrome

2017 ◽  
Vol 18 (2) ◽  
pp. 106-108
Author(s):  
Gurkan Atay ◽  
Gulsah Kavrul ◽  
Manolya Acar ◽  
Murat Sutcu ◽  
Kemal Nisli ◽  
...  
Keyword(s):  
Acute Respiratory Distress Syndrome ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

2015 ◽  
Vol 144 (4) ◽  
pp. 290-293 ◽  
Author(s):  
Elisabet Lloveras ◽  
Teresa Vendrell ◽  
Asunci�n Fern�ndez ◽  
Neus Castells ◽  
Ana Cueto ◽  
...  
Keyword(s):  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

A case of developmental delay by 18q23 deletion syndrome

2020 ◽  
Author(s):  
Catarina Chaves ◽  
Mariana Martinho ◽  
Carla Brandão ◽  
Catarina Rodrigues ◽  
Filipe Cunha ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome
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