De novo 11q deletion including SHANK2 in a patient with global developmental delay
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چکیده
منابع مشابه
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal ...
متن کاملMultiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.
We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT-proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555 kb on chromosome...
متن کاملClinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
www.eymj.org The 4q deletion syndrome is a rare disorder, with an estimated incidence of 1 in 100000 and approximately 150 patients have been reported globally. With common clinical presentations with craniofacial dysmorphism, cardiac and skeletal defects, growth failure and developmental delay, wide spectrum of phenotypes in 4q deletion syndrome patients have been described in correlations wit...
متن کاملDe novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmenta...
متن کاملFunctional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
The N-methyl-d-aspartate receptor (NMDAR), a ligand-gated ionotropic glutamate receptor, plays important roles in normal brain development and a wide range of neurologic disorders, including epilepsy. Here, we evaluate for the first time the functional properties of a de novo GRIN2A missense mutation (p.M817V) in the pre-M4 linker in a child with profound global developmental delay and refracto...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2017
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.38075