14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1289
Abstract: Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a… read more here.
Keywords: clinical characterization; microdeletion syndrome; region; characterization new ... See more keywords
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.01.005
Abstract: 15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability, epilepsy, language impairment, abnormal behaviors, neuropsychiatric disorders, and hypotonia. This syndrome is caused by a deletion on chromosome… read more here.
Keywords: 15q13 microdeletion; microdeletion syndrome; mice; syndrome ... See more keywords
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.12.006
Abstract: 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with… read more here.
Keywords: wdr26 fbxo28; 1q41q42 microdeletion; microdeletion syndrome; microdeletion ... See more keywords
SA60 TRANSCRIPTIONAL CHANGES IN MOUSE MODELS OF THE 15Q13.3 MICRODELETION SYNDROME
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.132
Abstract: Background The 15q13.3 microdeletion syndrome is caused by a 1.5 MB hemizygous microdeletion at chromosome 15q13.3 affecting seven genes: FAN1, MTMR10, TRPM1, MIR211, KLF13, OTUD7A, and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual… read more here.
Keywords: 15q13 microdeletion; mouse models; microdeletion syndrome; microdeletion ... See more keywords
De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0014-8
Abstract: PurposeWolf–Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility… read more here.
Keywords: phenotype; truncating variants; microdeletion syndrome; microdeletion ... See more keywords
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2127152
Abstract: ABSTRACT Background Although 8q21.11 microdeletion syndrome (8q21.11 DS) has been reported in association with congenital corneal opacities, reports of the clinicopathological features and management are scarce. Methods We reviewed medical records including ophthalmic evaluations, imaging,… read more here.
Keywords: microdeletion syndrome; corneal; 8q21 microdeletion; congenital corneal ... See more keywords
Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14175
Abstract: Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of… read more here.
Keywords: microdeletion syndrome; 1p36 microdeletion; family; 1p36 1p36 ... See more keywords
22q11 microdeletion syndrome and ultra‐high risk for psychosis: The role of neurological soft signs as an independent marker of vulnerability for psychosis
Sign Up to like & getrecommendations! Published in 2018 at "Early Intervention in Psychiatry"
DOI: 10.1111/eip.12754
Abstract: 22q11 microdeletion syndrome has an increased risk for psychosis, similar to subjects at ultra‐high risk for psychosis. Neurological soft signs are considered an endophenotype of psychotic disorders and a marker of vulnerability to Schizophrenia, consisting… read more here.
Keywords: risk; microdeletion syndrome; risk psychosis; ultra high ... See more keywords
P59 Clinical diversity in 22q11.2 microdeletion syndrome & difficulties in diagnoses using only fluroscence in situ hybridisation (fish)
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313273.147
Abstract: Background and Aims 22q11 Microdeletion syndrome is the most common microdeletion syndrome and the second most common genetic syndrome, but due to its vast range of clinical features varying in severity it commonly goes undiagnosed.… read more here.
Keywords: microdeletion syndrome; clinical diversity; microdeletion; syndrome ... See more keywords
[Neurofibromatosis-1 microdeletion syndrome.]
Sign Up to like & getrecommendations! Published in 2022 at "Orvosi hetilap"
DOI: 10.1556/650.2022.32673
Abstract: Neurofibromatosis type 1 is a clinically extremely heterogeneous neurocutaneous disorder, inherited in autosomal dominant manner. It is primarily caused by intragenic loss-of-function mutations in the NF1 gene, however, as a result of improvements in molecular… read more here.
Keywords: gene; microdeletion syndrome; neurofibromatosis microdeletion; neurofibromatosis ... See more keywords
Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
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DOI: 10.3390/genes13122315
Abstract: (1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1… read more here.
Keywords: microdeletion; microdeletion syndrome; 16p11 microdeletion; prenatal diagnosis ... See more keywords