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1.
A 3 3/12-year-old girl with multiple anomalies is reported. An interstitial deletion del(2)(q24q31) was demonstrated. There is considerable overlap of symptoms in cases with del(2)(q31q33), which are reviewed. 相似文献
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Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3) 下载免费PDF全文
Susanne Bens Adrian M. Stütz Fabiana Lubieniecki Inga Vater Jan O. Korbel Reiner Siebert Cristina N. Alonso Marta S. Gallego 《Genes, chromosomes & cancer》2016,55(9):677-687
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Two unrelated children, one with a proximal interstitial deletion 1 (1(pter----q21: :q25----qter] and the other one with a distal interstitial deletion 1 (1(pter----q41: :q43----qter] are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion 1q21/22/23----q25. The second patient with the distal interstitial deletion (q41-q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42). 相似文献
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Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21) 总被引:1,自引:0,他引:1
A de novo interstitial deletion of part of the long arm of chromosome 10 [del(10)(q11.2q21)] was identified by GTG (G-bands by trypsin using Giemsa) banding in a 9-year-old girl with mental retardation and minor anomalies. Only one other case of a similar deletion has been reported [Ray et al, 1980] and the phenotypic findings of the two cases are compared. 相似文献
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Elizabeth C. R. Mickelson Wendy P. Robinson Monica A. Hrynchak M.E. Suzanne Lewis 《American journal of medical genetics. Part A》1997,71(3):275-279
We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17-q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date. These findings and those of 4 others from the literature, with overlapping deletions of 17q and breakpoints between 17q21-17q24, are reviewed and compared. Similar phenotypic findings include growth retardation, global developmental delay, and specific musculoskeletal and craniofacial anomalies. The size of the specific deletion, and the proximal and distal breakpoints at this region of chromosome 17q, appear to be important in determining morbidity from cardiac involvement and may affect the extent of developmental delay. Am. J. Med. Genet. 71:275–279, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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Yoshimitsu Fukushima Keiko Wakui Toshiro Nishida Hiroshi Nishimoto 《American journal of medical genetics. Part A》1990,36(2):209-213
An interstitial deletion of 15q [46, XY, del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis. 相似文献
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Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] 总被引:3,自引:0,他引:3
An interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis. 相似文献
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Shiro Ikegawa Hirofumi Ohashi Fumie Hosoda Yoshimitsu Fukushima Misao Ohki Yusuke Nakamura 《American journal of medical genetics. Part A》1998,77(5):356-359
Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix protein has been identified in PSACH. However, clinical variability and genetic heterogeneity have been reported in PSACH, indicating a possible existence of a second PSACH gene. Here, we report on a patient with a typical severe form of PSACH who had a de novo interstitial deletion in the long arm of chromosome 11 [del(11)(q21q22.2)]. The size of the deletion was estimated at 0.8–7.3 Mb using fluorescent in situ hybridization (FISH). This deletion may contain or disrupt a second PSACH locus. Am. J. Med. Genet. 77:356–359, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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Descartes M Hain JZ Conklin M Franklin J Mikhail FM Lachman RS Nolet S Messiaen LM 《American journal of medical genetics. Part A》2008,(22):2937-2943
Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region. 相似文献
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Meloni-Ehrig AM Tirado CA Chen K Jahn J Suchan S Scheerle J Crosby MG Meany H Seibel N Leitenberg D Heritage DW Mowrey PN 《Cancer Genetics and Cytogenetics》2005,161(1):82-85
We present a case of del(14)(q21) as a sole abnormality in a 4-year-old boy diagnosed with precursor B-cell acute lymphoblastic leukemia (pre-B ALL). To our knowledge, this is the first case of isolated del(14)(q21) in pre-B ALL. Two pretreatment bone marrow samples obtained 5 days apart were analyzed by cytogenetics. The G-banded karyotypes of the two samples were similar, differing only in the ratio of normal/abnormal metaphases detected. Both samples showed a del(14)(q21) as the only abnormality. Fluorescence in situ hybridization performed using the probes TEL/AML1 and immunoglobulin heavy chain (IGH) showed no fusion involving the TEL and AML1 genes and only a single IGH signal in 20% of the interphase cells analyzed. 相似文献
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A partial monosomy 6q derived from a de novo 6q (q15q21) deletion, was seen in an infant male with mental retardation, odd facies and feeding difficulties. 相似文献
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Fernandez CV Lestou VS Wildish J Lee CL Sorensen PH 《Cancer Genetics and Cytogenetics》2001,129(2):165-167
We report a novel cytogenetic finding in a favorable histology Wilms tumor occurring in a 4-month-old boy. Karyotypic analysis demonstrated a t(6;15)(q21;q21) in all tumor cells examined. This was confirmed using fluorescence in situ hybridization analysis. Molecular analysis of this rearrangement may provide clues to understanding the pathobiology of Wilms tumor. 相似文献
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Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). 总被引:2,自引:0,他引:2 下载免费PDF全文
J Wolstenholme J Brown K G Masters C Wright C J English 《Journal of medical genetics》1994,31(8):647-648
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23. 相似文献
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刘敏华 《中华医学遗传学杂志》2005,22(1):101-101
患者女,21岁.2003年3月29日来我科婚前咨询。查体:身高140cm.体重46kg。系第2胎足月顺产.外观先天愚型貌,生活能自理,有正常月经来潮。其父母非近亲婚配,表型正常,孕2产2,其母孕期正常。其姐25岁。表型正常.已婚并生育一子,表型亦正常,否认有家族遗传病史。 相似文献
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Rumiko Kato Yutaka Yamada Norio Niikawa 《American journal of medical genetics. Part A》1996,66(2):184-186
We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor retardation. High-resolution chromosome banding analysis demonstrated an apparently balanced translocation: 46,XX,t(6;18)(q21;q21.3). It is hypothesized that both heterotaxia and the chromosomal abnormality in the patient are causally related and a putative situs determining gene has been disrupted by the chromosome break, i.e., a position effect or a cryptic deletion at around the breakpoints. The translocation in our patient may be a good source for positional cloning of the gene. © 1996 Wiley-Liss, Inc. 相似文献
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Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype 总被引:4,自引:0,他引:4
Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion. 相似文献
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion. 相似文献