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[PMID]: 23637096
[Au] Autor:Okamoto N; Ohmachi K; Shimada S; Shimojima K; Yamamoto T
[Ad] Address:Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. okamoto@osaka.email.ne.jp
[Ti] Title:109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
[So] Source:Am J Med Genet A;161A(6):1465-9, 2013 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with growth retardation, developmental disabilities, epileptic seizures, and distinct facial features resulting from a deletion of the short arm of chromosome 4. The Wolf-Hirschhorn Syndrome Critical Region WHSCR2 includes the LETM1 gene and 5' end of the WHSC1 gene. A haploinsufficiency of WHSC1 is thought to be responsible for a number of WHS characteristics. We report on a 2-year-old male with severe growth retardation, microcephaly and a characteristic facial appearance. He had no internal anomalies and his developmental milestones were mildly delayed. An array-CGH analysis revealed loss of genomic copy numbers in the region 4p16.3, which included FGFR3, LETM1, and WHSC1. The size of the deletion was only 109 kb. The deletion included the important genes in WHSCR2. We suspect that haploinsufficiency of WHSC1 is the most probable cause of the growth deficiency, microcephaly, and characteristic facial features in WHS.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosomes, Human, Pair 4/genetics
Histone-Lysine N-Methyltransferase/genetics
Intellectual Disability/genetics
Microcephaly/genetics
Repressor Proteins/genetics
Wolf-Hirschhorn Syndrome/genetics
[Mh] MeSH terms secundary: Calcium-Binding Proteins/genetics
Child, Preschool
Comparative Genomic Hybridization
Developmental Disabilities/genetics
Genotype
Haploinsufficiency
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability/diagnosis
Male
Membrane Proteins/genetics
Microcephaly/diagnosis
Phenotype
Receptor, Fibroblast Growth Factor, Type 3/genetics
Wolf-Hirschhorn Syndrome/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Calcium-Binding Proteins); 0 (LETM1 protein, human); 0 (Membrane Proteins); 0 (Repressor Proteins); EC 2.1.1.43 (Histone-Lysine N-Methyltransferase); EC 2.1.1.43 (WHSC1 protein, human); EC 2.7.10.1 (FGFR3 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3)
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:130524
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.35910

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[PMID]: 23637025
[Au] Autor:Kosho T; Okamoto N; Ohashi H; Tsurusaki Y; Imai Y; Hibi-Ko Y; Kawame H; Homma T; Tanabe S; Kato M; Hiraki Y; Yamagata T; Yano S; Sakazume S; Ishii T; Nagai T; Ohta T; Niikawa N; Mizuno S; Kaname T; Naritomi K; Narumi Y; Wakui K; Fukushima Y; Miyatake S; Mizuguchi T; Saitsu H; Miyake N; Matsumoto N
[Ad] Address:Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshuu.ac.jp
[Ti] Title:Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
[So] Source:Am J Med Genet A;161A(6):1221-37, 2013 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in SMARCB1, SMARCE1, and ARID1A mutations; variable in SMARCA4, SMARCA2, and ARID1B mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. SMARCB1 mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. SMARCA2 mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the upper lip, an everted lower lip and prominent finger joints. A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as "SWI/SNF-related ID syndromes".
[Mh] MeSH terms primary: Abnormalities, Multiple/genetics
Chromatin Assembly and Disassembly/genetics
Face/abnormalities
Foot Deformities, Congenital/genetics
Hand Deformities, Congenital/genetics
Hypotrichosis/genetics
Intellectual Disability/genetics
Micrognathism/genetics
Neck/abnormalities
Transcription Factors/genetics
[Mh] MeSH terms secundary: Chromosomal Proteins, Non-Histone/genetics
DNA Helicases/genetics
DNA-Binding Proteins/genetics
Facies
Female
Genetic Association Studies
Humans
Male
Mutation
Nuclear Proteins/genetics
Syndrome
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (ARID1A protein, human); 0 (ARID1B protein, human); 0 (Chromosomal Proteins, Non-Histone); 0 (DNA-Binding Proteins); 0 (Nuclear Proteins); 0 (SMARCA2 protein, human); 0 (SMARCB1 protein, human); 0 (SMARCE1 protein, human); 0 (Transcription Factors); EC 3.6.1.- (SMARCA4 protein, human); EC 3.6.4.- (DNA Helicases)
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:130524
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.35933

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[PMID]: 23613254
[Au] Autor:Pezzani L; Brena M; Callea M; Colombi M; Tadini G
[Ad] Address:Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.
[Ti] Title:X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
[So] Source:Am J Med Genet A;161A(6):1414-20, 2013 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature.
[Mh] MeSH terms primary: Genes, X-Linked/genetics
Genetic Diseases, X-Linked/genetics
Hyperpigmentation/genetics
Incontinentia Pigmenti/genetics
Skin/pathology
[Mh] MeSH terms secundary: Child, Preschool
Diagnosis, Differential
Female
Genetic Diseases, X-Linked/complications
Genetic Diseases, X-Linked/diagnosis
Genetic Linkage
Heterozygote
Humans
Hyperpigmentation/complications
Hyperpigmentation/diagnosis
Incontinentia Pigmenti/complications
Male
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:130524
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.35882

  4 / 6000 MEDLINE  
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[PMID]: 27066571
[Au] Autor:Shieh C; Moser F; Graham JM; Watiker V; Pierson TM
[Ad] Address:David Geffen School of Medicine at UCLA (C.S.), Los Angeles, CA; and Division of Clinical Neuroradiology and Interventional Neuroradiology (F.M.), Division of Clinical Genetics and Dysmorphology (J.M.G.), Department of Pediatrics (J.M.G., V.W.), Department of Pediatrics and Neurology (T.M.P.), and B...
[Ti] Title:Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.
[So] Source:Neurol Genet;1(4):e34, 2015 Dec.
[Is] ISSN:2376-7839
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To describe the phenotype of a patient with classical features of X-linked L1 syndrome associated with novel brain malformations. METHODS: Diagnostic analysis included physical and dysmorphology examinations, MRI of the brain, and exome sequencing of the family trio. RESULTS: We report a 2.5-year-old boy with developmental delay, dysmorphic facies, and adducted thumbs. MRI of the brain showed a truncated corpus callosum and periventricular heterotopias associated with polymicrogyria (PMG). Variant segregation analysis with exome sequencing discovered a novel maternally derived hemizygous variant in exon 14 of the L1CAM gene (c.1759 G>C; p.G587R). CONCLUSIONS: This novel L1CAM mutation was located in the protein's sixth immunoglobin domain and involved glycine-587, a key residue in the structure of L1CAM because of its interactions with lysine-606, which indicates that any mutation at this site would likely affect the secondary structure and function of the protein. The replacement of the small nonpolar glycine residue with a large basic arginine would have an even more dramatic result. The presentation of periventricular nodular heterotopias with overlying PMG is very uncommon, and its association with L1CAM may provide insight into other similar cases. Furthermore, this presentation indicates the important role that L1CAM plays in neuronal migration and brain development and extends the phenotype associated with L1CAM-associated disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1604
[Cu] Class update date: 160413
[Lr] Last revision date:160413
[Da] Date of entry for processing:160412
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1212/NXG.0000000000000034

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[PMID]: 26265730
[Au] Autor:Gunn DA; Larsen LA; Lall JS; Rexbye H; Christensen K
[Ad] Address:Unilever Research and Development, Colworth House, Sharnbrook, Bedfordshire, UK. david.gunn@unilever.com....
[Ti] Title:Mortality is Written on the Face.
[So] Source:J Gerontol A Biol Sci Med Sci;71(1):72-7, 2016 Jan.
[Is] ISSN:1758-535X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: It is unknown whether facial or surrounding (eg, hair and clothing) cues have the strongest influence on the perceived age of subjects in photographic images, and which drives links between perceived age and survival. METHODS: In 2001, 187 Danish twin pairs (n = 374) aged 70+ years were photographed generating passport-type images. The faces of the twins in these images were swapped creating two new images per twin pair (748 images in total). Ten nurses rated the perceived age of the twin from the original and swapped facial images. The survival of the twins was determined through to the end of 2013. RESULTS: Changing the face or its surrounding significantly changed the perceived age of the images, with only a marginal difference between their effect sizes (difference of 0.5 years, 95% confidence interval CI -0.1 to 1.1). Perceived age, adjusting for chronological age, and sex, was a predictor of survival up to 7 years (hazard ratio 1.17, 95% CI 1.10-1.25) and also 7-12 years (hazard ratio 1.06, 95% CI 1.00-1.12) after the photographs were taken. Where the older looking twin died first they had a significantly older looking face (1.4 years older, 95% CI 0.3-2.6) but not surrounding (0.3 years older, 95% CI -0.8 to 1.4) compared to where the older looking twin died second. CONCLUSIONS: Facial visual cues but not hair or clothing cues drive the link between perceived age and survival.
[Mh] MeSH terms primary: Aging
Facial Expression
56087
Facies
[Mh] MeSH terms secundary: Aged
Aging/physiology
Aging/psychology
Denmark/epidemiology
Face
Female
Follow-Up Studies
Humans
Male
Photography/methods
Survival Analysis
Twins/statistics & numerical data
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; TWIN STUDY
[Em] Entry month:1604
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:151217
[St] Status:MEDLINE
[do] DOI:10.1093/gerona/glv090

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[PMID]: 25894639
[Au] Autor:Lin MH; Numbenjapon N; Germain-Lee EL; Pitukcheewanont P
[Ti] Title:Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
[So] Source:J Pediatr Endocrinol Metab;28(7-8):911-8, 2015 Jul.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Progressive osseous heteroplasia (POH) is a condition of invasive heterotopic ossification. Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis. GNAS has been implicated to account for overlapping features of POH and PHP Ia. Case 1: A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock/forearm. Physical exam revealed round facies and brachydactyly. Blood tests showed normal Ca, P, Mg, 25-OH vitamin D levels but elevated parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH). Abdominal computed tomography (CT) showed areas with calcifications in the subcutaneous tissue, fat, and muscle. Pathology of excised tissue revealed ossifications. Genomic study revealed no GNAS mutation. He had POH and PHP Ia. Case 2: A 3-year-old boy with painful ossifications in the left lower extremity. Lab tests were notable for elevated PTH and high-normal TSH. The CT-scan showed subcutaneous/intramuscular calcifications. Genetic testing showed GNAS mutation in exon 12 [c.1024C>T (R342X)]. Patient had POH and PHP Ia. Case 3: A 9-year-old boy with knee pain and subcutaneous ossifications in back and upper/lower extremity, causing significantly limited joint mobility. Lab tests were normal. The CT-scan showed areas corresponding to subcutaneous/intramuscular ossifications throughout torso and extremities, consistent with POH. There was no GNAS mutation. CONCLUSIONS: Patients with heterotopic ossifications present with a wide spectrum of disease. Although GNAS-based mutations have been postulated to account for overlapping features of AHO and POH, normal DNA studies in certain patients with POH/AHO suggest that there may exist other molecular/epigenetic mechanisms explaining their overlapping features.
[Mh] MeSH terms primary: Bone Diseases, Metabolic/genetics
GTP-Binding Protein alpha Subunits, Gs/genetics
Mutation/genetics
Ossification, Heterotopic/genetics
Pseudohypoparathyroidism/genetics
Skin Diseases, Genetic/genetics
[Mh] MeSH terms secundary: Bone Diseases, Metabolic/complications
Bone Diseases, Metabolic/pathology
Child
Child, Preschool
Humans
Male
Ossification, Heterotopic/complications
Ossification, Heterotopic/pathology
Prognosis
Pseudohypoparathyroidism/complications
Pseudohypoparathyroidism/pathology
Skin Diseases, Genetic/complications
Skin Diseases, Genetic/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
[Nm] Name of substance:EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:150714
[St] Status:MEDLINE

  7 / 6000 MEDLINE  
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[PMID]: 26002754
[Au] Autor:Järvinen A; Ng R; Crivelli D; Arnold AJ; Woo-VonHoogenstyn N; Bellugi U
[Ad] Address:Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA, USA. Electronic address: pasley@salk.edu....
[Ti] Title:Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome.
[So] Source:Neuropsychologia;73:127-40, 2015 Jul.
[Is] ISSN:1873-3514
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Compromised social-perceptual ability has been proposed to contribute to social dysfunction in neurodevelopmental disorders. While such impairments have been identified in Williams syndrome (WS), little is known about emotion processing in auditory and multisensory contexts. Employing a multidimensional approach, individuals with WS and typical development (TD) were tested for emotion identification across fearful, happy, and angry multisensory and unisensory face and voice stimuli. Autonomic responses were monitored in response to unimodal emotion. The WS group was administered an inventory of social functioning. Behaviorally, individuals with WS relative to TD demonstrated impaired processing of unimodal vocalizations and emotionally incongruent audiovisual compounds, reflecting a generalized deficit in social-auditory processing in WS. The TD group outperformed their counterparts with WS in identifying negative (fearful and angry) emotion, with similar between-group performance with happy stimuli. Mirroring this pattern, electrodermal activity (EDA) responses to the emotional content of the stimuli indicated that whereas those with WS showed the highest arousal to happy, and lowest arousal to fearful stimuli, the TD participants demonstrated the contrasting pattern. In WS, more normal social functioning was related to higher autonomic arousal to facial expressions. Implications for underlying neural architecture and emotional functions are discussed.
[Mh] MeSH terms primary: Emotions
56087
Recognition (Psychology)
Social Perception
Speech Perception
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Electrocardiography
Emotions/physiology
56087/physiology
Female
Galvanic Skin Response
Humans
Male
Middle Aged
Psychological Tests
Recognition (Psychology)/physiology
Speech Perception/physiology
Williams Syndrome/physiopathology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1604
[Cu] Class update date: 150617
[Lr] Last revision date:150617
[Js] Journal subset:IM
[Da] Date of entry for processing:150615
[St] Status:MEDLINE

  8 / 6000 MEDLINE  
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[PMID]: 26329266
[Au] Autor:Zaidi FK; Nazzal Y; Jafri MK; Naeem M; Ahmed I
[Ad] Address:Department of Geology and Geophysics, College of Science, King Saud University, Riyadh, Saudi Arabia, fzaidi@ksu.edu.sa.
[Ti] Title:Reverse ion exchange as a major process controlling the groundwater chemistry in an arid environment: a case study from northwestern Saudi Arabia.
[So] Source:Environ Monit Assess;187(10):607, 2015 Oct.
[Is] ISSN:1573-2959
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Assessment of groundwater quality is of utmost significance in arid regions like Saudi Arabia where the lack of present-day recharge and high evaporation rates coupled with increasing groundwater withdrawal may restrict its usage for domestic or agricultural purposes. In the present study, groundwater samples collected from agricultural farms in Hail (15 samples), Al Jawf (15 samples), and Tabuk (30 samples) regions were analyzed for their major ion concentration. The objective of the study was to determine the groundwater facies, the main hydrochemical process governing the groundwater chemistry, the saturation index with respect to the principal mineral phases, and the suitability of the groundwater for irrigational use. The groundwater samples fall within the Ca-Cl type, mixed Ca-Mg-Cl type, and Na-Cl type. Evaporation and reverse ion exchange appear to be the major processes controlling the groundwater chemistry though reverse ion exchange process is the more dominating factor. The various ionic relationships confirmed the reverse ion exchange process where the Ca and Mg in the aquifer matrix have been replaced by Na at favorable exchange sites. This phenomenon has accounted for the dominance of Ca and Mg ions over Na ion at all the sites. The process of reverse ion exchange was further substantiated by the use of modified Piper diagram (Chadha's classification) and the chloro-alkaline indices. Evaporation as a result of extreme aridity has resulted in the groundwater being oversaturated with aragonite/calcite and dolomite as revealed by the saturation indices. The groundwater samples were classified as safe (less than 10) in terms of sodium adsorption ratio (SAR) values, good (less than 1.25) in terms of residual sodium carbonate (RSC) values, and safe to moderate (between 0 and 3) in terms of Mg hazard for irrigation purposes. Though the high salinity groundwater in the three regions coupled with low SAR values are good for the soil structure, it can have a negative impact on the crop production by adversely affecting the crop physiology. Cultivation of high-salinity-resistant varieties of crops is recommended for maximum agricultural productivity.
[Mh] MeSH terms primary: Environmental Monitoring/methods
Groundwater/chemistry
Ion Exchange
Water Pollutants, Chemical/analysis
Water Purification/methods
[Mh] MeSH terms secundary: Adsorption
Agricultural Irrigation
Carbonates
Desert Climate
Salinity
Saudi Arabia
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Carbonates); 0 (Water Pollutants, Chemical); 45P3261C7T (sodium carbonate)
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:150902
[St] Status:MEDLINE
[do] DOI:10.1007/s10661-015-4828-4

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[PMID]: 27069036
[Au] Autor:Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V
[Ad] Address:Department of Human Genetics, Sri Ramachandra University, Chennai, India....
[Ti] Title:Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
[So] Source:Lab Med;47(2):171-5, 2016 May.
[Is] ISSN:1943-7730
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Microdeletions of the 7q11.23 Williams-Beuren syndrome chromosome region (WBSCR) are reported with a frequency of 1 in 10,000, whereas microduplications of the region, although expected to occur at the same frequency, are not widely reported. METHOD: We evaluated a 9-year old Omani boy for idiopathic intellectual disability using genetic methods, including multiplex ligation-dependent probe amplification (MLPA), for detection of microdeletions (P064-B3). RESULTS: MLPA analysis revealed that the boy has a rare microduplication of the WBSCR. Prominent clinical features include global developmental delay with pronounced speech delay, dysmorphic facies, and autistic features. CONCLUSION: Microduplications, in general, are reported at a lesser frequency, perhaps owing to their milder phenotype. Complete genetic assessment in children with idiopathic intellectual disability would help in identifying rare conditions such as duplication of the WBSCR.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1604
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1093/labmed/lmw005

  10 / 6000 MEDLINE  
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[PMID]: 26187867
[Au] Autor:Hafiz A; Mufeed A; Ismael M; Alam M
[Ad] Address:Department of Paediatric Dentistry, MES Dental College, Perinthalmanna, Kerala, India....
[Ti] Title:An unusual case of KBG syndrome with unique oral findings.
[So] Source:BMJ Case Rep;2015, 2015.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome reported from the Indian subcontinent. Meticulous evaluation of the dental findings helps to identify such cases which may otherwise remain undiagnosed. Further research is warranted to determine the classic and variant presentations of this condition, with follow-up data providing valuable insights into its natural history and long-term prognosis.
[Mh] MeSH terms primary: Abnormalities, Multiple/diagnosis
Bone Diseases, Developmental/diagnosis
Intellectual Disability/diagnosis
Tooth Abnormalities/diagnosis
Tooth
[Mh] MeSH terms secundary: Abnormalities, Multiple/pathology
Bone Diseases, Developmental/pathology
Child
Facies
Female
Humans
India
Intellectual Disability/pathology
Syndrome
Tooth Abnormalities/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1604
[Js] Journal subset:IM
[Da] Date of entry for processing:150718
[St] Status:MEDLINE


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