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1.
Koolen DA Sharp AJ Hurst JA Firth HV Knight SJ Goldenberg A Saugier-Veber P Pfundt R Vissers LE Destrée A Grisart B Rooms L Van der Aa N Field M Hackett A Bell K Nowaczyk MJ Mancini GM Poddighe PJ Schwartz CE Rossi E De Gregori M Antonacci-Fulton LL McLellan MD Garrett JM Wiechert MA Miner TL Crosby S Ciccone R Willatt L Rauch A Zenker M Aradhya S Manning MA Strom TM Wagenstaller J Krepischi-Santos AC Vianna-Morgante AM Rosenberg C Price SM Stewart H Shaw-Smith C Brunner HG Wilkie AO Veltman JA 《Journal of medical genetics》2008,45(11):710-720
2.
El Chehadeh-Djebbar S Callier P Masurel-Paulet A Bensignor C Méjean N Payet M Ragon C Durand C Marle N Mosca-Boidron AL Huet F Mugneret F Faivre L Thauvin-Robinet C 《European journal of medical genetics》2011,54(3):102-373
We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown. 相似文献
3.
Jos I.M. Egger Ellen Wingbermühle Willem M.A. Verhoeven Marije Dijkman Sina Radke Ellen R.A. de Bruijn Bert de Vries Roy P.C. Kessels David Koolen 《American journal of medical genetics. Part A》2013,161(1):21-26
The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical observations have suggested a remarkably amiable, friendly disposition, to some extent comparable to that observed in Angelman and Williams syndromes. The present study focuses on the various aspects of neurocognitive functioning, particularly social cognition, in patients with 17q21.31 microdeletion syndrome. Neuropsychological assessment was performed in three out of the four known Dutch patients with a genetically proven 17q21.31 microdeletion syndrome. Apart from developmental age, cognition and social‐emotional functioning was extensively assessed. In addition, data of three intellectually disabled physically healthy reference subjects, recruited from a small outpatient sample, were included. The general cognitive profile of all subjects was in accordance with their lowered intellectual capacities, albeit that in patients with the 17q21.31 microdeletion, a relatively strong memory for social‐contextual information was found. Basic emotion perception was intact, but patients with the 17q21.31 microdeletion syndrome showed less social fear and more approaching behavior. Interestingly, alexithymic traits, that is marked difficulties in the recognition and expression of emotions, were more prevalent in reference subjects. Despite the methodological limitations characteristic for research in people with intellectual disabilities, with a neuropsychological assessment strategy, in three patients with 17q21.31 microdeletion syndrome, preliminary evidence for hypersocial behavior with a high level of frustration tolerance was found that may be implicated in its behavioral phenotype. © 2012 Wiley Periodicals, Inc. 相似文献
4.
Koolen DA Dupont J de Leeuw N Vissers LE van den Heuvel SP Bradbury A Steer J de Brouwer AP Ten Kate LP Nillesen WM de Vries BB Parker MJ 《European journal of human genetics : EJHG》2012,20(7):729-733
The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be the parent-of-origin for the 17q21.31 deletion. Fluorescence in situ hybridisation analyses in buccal mucosa cells, of the mother of family 1, identified monosomy 17q21.31 in 4/50 nuclei (8%). In mother of family 2, the deletion was identified in 2/60 (3%) metaphase and in 3/100 (3%) interphase nuclei in peripheral lymphocytes, and in 7/100 (7%) interphase nuclei in buccal cells. A common 17q21.31 inversion polymorphism predisposes to non-allelic homologous recombination and hereby to the 17q21.31 microdeletion syndrome. On the basis of the 17q21.31 inversion status of the parents, we calculated that the probability of the second deletion occurring by chance alone was 1/14,438 and 1/4812, respectively. If the inversion status of the parents of a child with the 17q21.31 microdeletion syndrome is unknown, the overall risk of a second child with the 17q21.31 microdeletion is 1/9461. We conclude that the presence of low-level maternal somatic-gonadal mosaicism is associated with the microdeletion recurrence in these families. This suggests that the recurrence risk for parents with a child with a 17q21.31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling. 相似文献
5.
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients 下载免费PDF全文
Guillaume Jedraszak Bénédicte Demeer Michèle Mathieu‐Dramard Joris Andrieux Aline Receveur Astrid Weber Una Maye Nicola Foulds IK Temple John Crolla Marie‐Pierre Alex‐Cordier Damien Sanlaville Lisa Ewans Meredith Wilson Ruth Armstrong Amanda Clarkson Henri Copin Gilles Morin 《American journal of medical genetics. Part A》2015,167(3):504-511
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Caselli R Speciale C Pescucci C Uliana V Sampieri K Bruttini M Longo I De Francesco S Pramparo T Zuffardi O Frezzotti R Acquaviva A Hadjistilianou T Renieri A Mari F 《Journal of human genetics》2007,52(6):535-542
We describe three patients with retinoblastoma, dysmorphic features and developmental delay. Patients 1 and 2 have high and
broad forehead, deeply grooved philtrum, thick anteverted lobes and thick helix. Patient 1 also has dolicocephaly, sacral
pit/dimple and toe crowding; patient 2 shows intrauterine growth retardation and short fifth toe. Both patients have partial
agenesis of corpus callosum. Patient 3 has growth retardation, microcephaly, thick lower lip and micrognathia. Using array-comparative
genomic hybridization (CGH), we identified a 13q14 de novo deletion in patients 1 and 2, while patient 3 had a 7q11.21 maternally
inherited deletion, probably not related to the disease. Our results confirm that a distinct facial phenotype is related to
a 13q14 deletion. Patients with retinoblastoma and malformations without a peculiar facial phenotype may have a different
deletion syndrome or a casual association of mental retardation and retinoblastoma. Using array-CGH, we defined a critical
region for mental retardation and dysmorphic features. We compared this deletion with a smaller one in a patient with retinoblastoma
(case 4) and identified two distinct critical regions, containing 30 genes. Four genes appear to be good functional candidates
for the neurological phenotype: NUFIP1 (nuclear fragile X mental retardation protein 1), HTR2A (serotonin receptor 2A), PCDH8 (prothocaderin 8) and PCDH17 (prothocaderin 17). 相似文献
7.
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature 下载免费PDF全文
Rita Fischetto Orazio Palumbo Federica Ortolani Pietro Palumbo Maria Pia Leone Francesco Andrea Causio Sabino Pesce Maria Christina Digilio Massimo Carella Francesco Papadia 《American journal of medical genetics. Part A》2017,173(7):1922-1930
8.
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome 下载免费PDF全文
Pietro Palumbo Maria Accadia Maria P. Leone Teresa Palladino Raffaella Stallone Massimo Carella Orazio Palumbo 《American journal of medical genetics. Part A》2018,176(2):391-398
9.
An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs 下载免费PDF全文
Chiara Barone Antonio Novelli Anna Capalbo Antonella Cataliotti del Grano Maria Grazia Giuffrida Lara Indaco Sebastiano Bianca 《American journal of medical genetics. Part A》2015,167(7):1671-1673
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Menten B Buysse K Zahir F Hellemans J Hamilton SJ Costa T Fagerstrom C Anadiotis G Kingsbury D McGillivray BC Marra MA Friedman JM Speleman F Mortier G 《Journal of medical genetics》2007,44(4):264-268
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities. 相似文献
11.
Terrone G D'Amico A Imperati F Carella M Palumbo O Gentile M Canani RB Melis D Romano A Parente I Riccitelli M Del Giudice E 《European journal of medical genetics》2012,55(8-9):466-471
The 17q21.31 microdeletion syndrome is a genetic disorder characterized by intellectual disability, facial dysmorphisms and a typical behavioral phenotype. Patients are usually described as friendly and cooperative but they can also show behavioral problems such as hyperactivity, bad humor, temper tantrums and poor interaction. Central nervous system involvement includes callosal dysgenesis/absence, enlargement of lateral ventricles and abnormalities of cyngulate gyrus. We report on two Italian patients with the 17q21.31 microdeletion syndrome better emphasizing neuroimaging and neuropsychological characteristics. In particular, we carried out an assessment of intellectual efficiency and behavior that turned out to be within the mild-moderate range of mental retardation, as already reported in the literature. To the best of our knowledge this is the first report of a patient with the 17q21.31 microdeletion and a Chiari malformation type 1 coexisting with a mild anomaly of medulla oblongata. This malformation should be considered in patients with the 17q21.31 microdeletion syndrome, presenting suggestive symptoms (headache, neck pain, cerebellar signs or muscle weakness). 相似文献
12.
Kirchhoff M Bisgaard AM Duno M Hansen FJ Schwartz M 《European journal of medical genetics》2007,50(4):256-263
Array-CGH analysis using 244k Agilent oligoarray revealed a de novo 17q21.31 microduplication in a 10-year-old girl with severe psychomotor developmental delay, facial dysmorphism, microcephaly, abnormal digits and hirsutism. The duplication encompassed the MAPT and CRHR1 genes and was reciprocal to the recently described 17q21.31 microdeletion, associated with a recognizable clinical phenotype. Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication. 相似文献
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14.
目的明确3个有胎儿肾脏发育异常史的家系的遗传学病因,并分析其与表型的相关性。方法采集先证者的外周血或引产胎儿的皮肤样本,应用二代测序技术对全基因组染色体拷贝数变异进行检测。结果家系1患者曾反复发生胎儿肾脏发育异常,且合并多囊肾及糖尿病,家系2和3均于孕期发现胎儿肾脏发育异常。3个家系的样本均发现在17q12区存在1.4~1.48 Mb的杂合性缺失,其范围均涉及HNF1B基因。结论17q12微缺失综合征患者的肾脏表现尤为广泛,不易确诊。对染色体拷贝数进行检测有助于明确相关肾脏异常的遗传学病因。 相似文献
15.
Dimitri J. Stavropoulos Daune L. MacGregor Grace Yoon 《European journal of medical genetics》2010,53(6):994-399
We present the clinical and cytogenetic findings in an 8 year old girl with mental retardation, acquired microcephaly, delayed motor skills and stereotypical hand movements. Array comparative genomic hybridization identified a mosaic de novo deletion of approximately 7.505 Mb in chromosome region 18q21.1q21.31, resulting in the loss of one copy of the TCF4 gene as well as 29 other RefSeq genes. The deletion likely occurred early in development as this child has clinical symptoms affecting multiple organ systems, reminiscent of those observed in Pitt–Hopkins syndrome (PHS; OMIM 610954). This case represents the second known example of a mosaic deletion resulting in clinical symptoms consistent with Pitt-Hopkins syndrome, and illustrates the utility of genomic microarray analysis in detecting large mosaic imbalances that may otherwise be missed by G-band analysis. 相似文献
16.
Wohlleber E Kirchhoff M Zink AM Kreiss-Nachtsheim M Küchler A Jepsen B Kjaergaard S Engels H 《European journal of medical genetics》2011,54(1):67-72
Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6?Mb that contains 10 genes, several of which have functions in neuronal development. This report illustrates the power of databases such as DECIPHER and MRNET in assessing the pathogenicity of copy-number variations (CNVs). 相似文献
17.
Rooryck C Burgelin I Stef M Taine L Thambo JB Lacombe D Arveiler B 《European journal of medical genetics》2008,51(1):74-80
We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes. 相似文献
18.
Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31 总被引:6,自引:0,他引:6
We studied 10 members of a 4 generation Missouri kindred with a dominant mental retardation syndrome with increasing severity in males. The 21 year-old propositus presented with severe mental retardation, microcephaly, asymmetric face, exotropia, hypogonadism, joint hypermobility, rocker bottom feet, and 10 low digital arches. Two brothers and a male cousin had similar features. The mother, sister, niece, maternal aunt, female cousin, and grandmother were examined and each had 8 to 10 low digital arches. Five of the women had exotropia and one had pes cavus feet. Chromosome analysis for fragile X in multiple relatives was normal. To determine the likelihood that this was an X-linked syndrome. DNA from relatives was hybridized to probes which detect 13 different loci spanning the X-chromosome. A peak LOD score of 2.78 at theta equal to 0.0 was calculated for the syndrome locus and DXYS1 (pDP34). The more distal Xq loci showed increasing recombination with the syndrome locus. These results are consistent with location for this syndrome near Xq21.31, the chromosomal locus for DXYSI. 相似文献
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