共查询到20条相似文献,搜索用时 15 毫秒
1.
Asli N. Silahtaroglu Seniha Hacihanefioglu Sükriye Yilmaz Yelda Tarkan Asim Cenani Zeynep Tümer 《Clinical genetics》1995,47(5):270-273
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome. 相似文献
2.
Hitoshi Nakashima Tomoko Hasegawa Masako Sakai Rie Inaba Takashi Imamura 《Journal of human genetics》1995,40(2):185-188
Summary The patient displayed the clinical features consistent with tetrasomy (18p) syndrome, who had an extra small metacentric iso(18p) chromosome in otherwise normal karyotype. Identification of the marker chromosome used the chromosome 18 band-specific fluorescencein situ hybridization strategy. 相似文献
3.
Elke Back Roland Toder Ion Voiculescu Anke Wildberg Werner Schempp 《Clinical genetics》1994,45(6):301-304
This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both cases. 相似文献
4.
A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 is reviewed. 相似文献
5.
目的应用比较基因组杂交技术(comparative genomic hybridization,CGH)、荧光原位杂交(fluorescence in situ hybridization,FISH)和传统细胞遗传学技术分析1例额外标记染色体(supernumerary marker chromosome,SMC),探讨这些技术的联合使用在识别新发生的标记染色体方面的临床应用。方法1例智力低下患儿,通过常规G显带技术分析其染色体核型。针对发现的SMC,通过CGH分析其起源,通过FISH技术证实。同时应用N带和C带技术分析SMC的随体组成和着丝粒组成。结合已有的文献报道,分析该SMC的表型效应。结果染色体G带分析显示患者为携带SMC的嵌合体,核型描述为mos.47,XX,+may[31]/48,XX,+2mar[29]。CGH分析显示患儿基因组中有15q11→q14片段重复,以15q探针与患者中期分裂相进行FISH检测证实SMC来源于15号染色体。应用检测缺失型Prader-wiUi综合征/Angelman综合征的UBE3A探针与患者中期分裂相检测显示SMC有两个UBE3A杂交信号,对照的PML位点没有信号。N带显示SMC携带双随体,c带分析SMC为双着丝粒。综合上述结果,患者核型为:mos.47,xx,+der(15)(pter+q14::q14→pter)[31]/48,XX,+2der(15)(pter→q14::q14→pter)[29].ish der(15)(WCPl5+,UBE3A++,PML-)。结论CGH对于检测出不平衡染色体结构重排具有提示作用,结合FISH和传统的细胞遗传学技术,为确定SMC的结构组成提供了可信的技术平台,为分析这类异常核型个体的表型、预后和复发风险提供了依据。 相似文献
6.
Supernumerary marker chromosomes (SMC) can be associated with both normal and abnormal phenotypes. In addition, SMC are found at higher frequency in males with infertility. We identified a SMC, characterized as a del(15)(q11.2) chromosome, in a phenotypically normal male. Using fluorescence in situ hybridization (FISH), we examined the segregation of the del(15) chromosome in sperm from this patient. Only 6.23% of sperm nuclei showed disomy using a chromosome 15 alpha-satellite FISH probe, instead of the expected 50%. In addition, FISH analysis showed no increase for non-disjunction of chromosome 18, excluding an interchromosomal effect for this chromosome. The significant decrease in sperm bearing the del(15) may be due to tissue-specific mosaicism or a result of some form of selection against the del(15) during spermatogenesis. This finding provides a basis for the observation that SMC(15) are less likely to be inherited from a paternal carrier. 相似文献
7.
We report a 15-month-old female with developmental delay, hypotonia, and minor anomalies whose karyotype is 47,XX, + r. Due to its small size, the origin of the ring chromosome was indeterminate by standard G-banded karyotyping. Fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentric region of chromosome 8. © 1994 Wiley-Liss, Inc. 相似文献
8.
We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identified the marker as deriving from chromosome 17. Am. J. Med. Genet. 69:35–355, 1997. © Wiley-Liss, Inc. 相似文献
9.
目的 了解Turner综合征患儿标记染色体的来源,以指导遗传咨询及治疗。方法 在染色体核型分析的基础上,对32例Turner综合征患者进行回顾性分析。对3例含有标记染色体的患儿进一步用荧光原位杂交技术研究标记染色体的来源。结果 3例含有标记染色体的Turner综合征患儿中,确定1例患儿的标记染色体来源于Y染色体,含有性别决定基因;1例来源于X染色体;另外1例未能确定其来源,该标记染色体可能来源于性染色体的其他片段或其他端着丝粒染色体。结论 Turner综合征患者的标记染色体大多来源于性染色体(X染色体、Y染色体),也可能来源于其他端着丝粒染色体。有必要同时应用X染色体和Y染色体特异性探针对Turner综合征患者进行标记染色体的荧光原位杂交分析,以明确标记染色体的来源。 相似文献
10.
A. Rauch R. A. Pfeiffer U. Trautmann T. Liehr H. D. Rott R. Ulmer 《Clinical genetics》1992,42(2):84-90
In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a mentally retarded dysmorphic child and an idic(15) in a child with Fallot tetralogy was confirmed. In a child with r(21), a supernumerary marker was shown to be derived from no. 21, while in the mother an additional marker idic(22) was noted. 相似文献
11.
Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization
Harold Chen Cathy M. Tuck-Muller Denise A. S. Batista Wladimir Wertelecki 《American journal of medical genetics. Part A》1995,56(2):219-223
We report on a 15-year-old black boy with severe mental retardation, multiple congenital anomalies, and a supernumerary ring chromosome mosaicism. Fluorescence in situ hybridization with a chromosome 1 painting probe (pBS1) identified the ring as derived from chromosome 1. The karyotype was 46,XY/47,XY,+r(1)(p13q23). A review showed 8 reports of ring chromosome 1. In 5 cases, the patients had a non-supernumerary ring chromosome 1 resulting in partial monosomies of the short and/or long arm of chromosome 1. In 3 cases, the presence of a supernumerary ring resulted in partial trisomy of different segments of chromosome 1. In one of these cases the supernumerary ring was composed primarily of the centromere and the heterochromatic region of chromosome 1, resulting in normal phenotype. Our patient represents the third report of a supernumerary ring chromosome 1 resulting in abnormal phenotype. © 1995 Wiley-Liss, Inc. 相似文献
12.
13.
A. Jaziorowska G. E. Houck Jr. X.-L. Yao S. L. Sklower-Brooks K. E. Wisniewski E. C. Jenkins H. M. Wisniewski 《Clinical genetics》1992,42(3):124-128
We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12. 相似文献
14.
Röthlisberger B Chrzanowska K Balmer D Riegel M Schinzel A 《Journal of medical genetics》2000,37(2):121-124
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerary marker chromosome in a mentally retarded girl with a pattern of dysmorphic features. It could be clearly shown that the small marker chromosome originates from two different regions of chromosome 18, 18p11.1-->18q11.1 and 18q12.3-->18q21.1 respectively. Maternal origin of the de novo ESAC and biparental origin of the normal homologues of chromosome 18 were shown by PCR of several highly polymorphic microsatellites. In this case, application of microFISH was a prerequisite for rapid and precise characterisation of an ESAC. A definite identification of this discontinuous supernumerary marker chromosome would not have been possible using FISH with centromere specific probes or multicolour FISH approaches. 相似文献
15.
Reema Mewar Antonie D. Kline Laird Jackson Joan Overhauser 《American journal of medical genetics. Part A》1992,44(4):477-481
We report on a 7-year-old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques. © Wiley-Liss, Inc. 相似文献
16.
目的 为指导遗传咨询,鉴别Turner 综合征患者微小标记染色体起源。方法 选择SRY 基因编码区1 对特异寡核苷酸引物、X 和Y 染色体特异探针,采用PCR 及荧光原位杂交方法,对8 例具有Turner 综合征体征的患者进行标记染色体分析。结果 5 例患者标记染色体起源于X染色体;3 例起源于Y 染色体,其中2 例SRY 基因序列扩增,可见男性特异扩增带,另1 例无男性特异扩增带。结论 FISH 与PCR 技术结合可准确鉴别标记染色体,对选择治疗方案及了解核型与表型关系有指导意义。 相似文献
17.
Jrn Koch Hanne Fischer Hanne Askholm Johnny Hindkjr Sren Pedersen Steen Kelvraa Lars Bolund 《Clinical genetics》1993,43(4):200-203
A case of a supernumerary der(18) marker chromosome is presented. The chromosomal origin of the marker chromosome was not evident by traditional chromosome analysis, but was determined by PRimed IN Situ labelling (PRINS) with chromosome specific centromere probes as primers for chain elongation in situ. For this purpose a strategy was developed which, in a few simple reactions, makes it possible unequivocally to determine the origin of any small marker chromosome. The approach does not require any hints about the origin of the chromosome prior to the analysis, since the chromosomal origin of the marker is established through PRINS reactions with pooled and single chromosome-specific centromere probes. Identification, mosaic screening and structural analysis require a total of 8–9 such reactions and may, due to the extreme speed of the PRINS reaction, be obtained within a single working day. 相似文献
18.
Alessandra M. V. Duncan Athen Macdonald Carolyn J. Brown Daynna Wolff Huntington F. Willard Bernice Sutton 《American journal of medical genetics. Part A》1993,47(8):1153-1156
We report on a male with mild learning disabilities who has a supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridization as a ring X chromosome with breakpoints in the juxacentromeric region. Replication studies suggest that the ring X is late-replicating. However XIST, a gene in the X inactivation centre interval which is expressed exclusively from the inactive X chromosome, is not present on the marker, nor is it expressed in the patient's cells. These results are discussed with respect to karyotype-phenotype correlations and X inactivation. © 1993 Wiley-Liss, Inc. 相似文献
19.
Stuart Schwartz Theresa W. Depinet Julie Leana-Cox Nelson B. Isada Evelyn M. Karson Vicki M. Park Linda M. Pasztor Linda C. Sheppard Richard Stallard Daynna J. Wolff Arthur B. Zinn Vickie L. Zurcher Joleen L. Zackowski 《American journal of medical genetics. Part A》1997,71(1):1-7
Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers. Both fresh and older slides, some of which had been previously G-banded, were used in these determinations. We have also reviewed the literature on sex chromosome markers identified using FISH. Am. J. Med. Genet. 71:1–7, 1997. © 1997 Wiley-Liss, Inc. 相似文献
20.
Shibo Li Cathy M. Tuck-Muller Jos E. Martínez Ewellonda R. Rowley Harold Chen Wladimir Wertelecki 《American journal of medical genetics. Part A》1998,80(5):487-490
We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations. Am. J. Med. Genet. 80:487–490, 1998. © 1998 Wiley-Liss, Inc. 相似文献