Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
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DOI: 10.1016/j.ejmg.2018.08.012
Abstract: Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending… read more here.
Keywords: dysmorphic features; developmental delay; delay dysmorphic; deletion ... See more keywords
Interstitial Duplication on Chromosome 3p14.3p13 in an Adolescent with Dysmorphic Features and Autism, Case Report
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DOI: 10.1093/ajcp/aqac126.092
Abstract: The genetic etiology of autism spectrum disorders is only partially understood. Here we describe a 16-year-old male diagnosed with autism at two years of age. He has dysmorphic features, severe cognitive disability, and history of… read more here.
Keywords: case report; interstitial duplication; duplication chromosome; dysmorphic features ... See more keywords
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
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DOI: 10.1111/cge.13132
Abstract: Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously… read more here.
Keywords: dysmorphic features; developmental delay; delineation; setd5 ... See more keywords
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
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DOI: 10.1186/s13052-019-0755-2
Abstract: BackgroundMutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms… read more here.
Keywords: dysmorphic features; congenital microcephaly; child; prrt2 gene ... See more keywords
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
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DOI: 10.1186/s13256-017-1402-4
Abstract: BackgroundPersistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the… read more here.
Keywords: persistent pulmonary; dysmorphic features; pulmonary hypertension; hypertension newborn ... See more keywords