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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy
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Piero Pavone, Martino Ruggieri, Simona D Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla. - 2020
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
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In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
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In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
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Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
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In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (2012)
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| 8 |
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-02128729 ; Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩ (2010)
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| 9 |
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
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1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child
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In: DTIC (2010)
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A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2009)
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Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008)
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| 13 |
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
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Abstract:
Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the characteristic facial phenotype of AS, but in three there was a normal head circumference, two had epilepsy, ataxic movements were mild in three, the mean age of onset of walking was 2.4 years, and there was some sign language in all four patients. Our cases add further weight to the previously reported impressions of a milder phenotype in cases of AS resulting from UPD than in deleted AS patients. Patients suspected of having AS, but who are considered atypical, warrant DNA testing. ; Smith, A; Marks, R; Haan, E; Dixon, J; Trent, R J
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Keyword:
Chromosomes; Human; Multiple; Aneuploidy; Chromosome Deletion; Genomic Imprinting; Child; Female; Male; Pair 15; Humans; Angelman Syndrome; Abnormalities
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URL: https://doi.org/10.1136/jmg.34.5.426
http://hdl.handle.net/2440/7532
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| 14 |
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
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In: Cytogenetic and genome research, vol 98, iss 4 (2002)
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The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2000)
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