Karyotype 45, XX, --11,2q+ of bone marrow cells in a case of di Guglielmo syndrome.

The case of 50-years-old woman with the chronic type of erythraemia (di Guglielmo syndrome) and the karyotype 45, XX, --11,2q+ of bone marrow cells is described. By means of G-banding the karyotype 45,XX, -2, -11, + der (2), t(2;11) (2pter leads to 2qter:: 11q12 leads to 11qter) was established. The karyotype of bone marrow was thus partically monosomic for chromosome No. 11, for its segment 11 (pter leads to q11).     

多花水仙(Narcissus tozetta L.)染色体基数x=10和X=11之间进化关系的研究

多花水仙的染色体基数有x=10和x=11两类。基数x=10组型有两种,一种是具6长、4短的典型不对称的二形染色体组型;另一种是具有4长、2中、4短(或5长、2中、3短)的非二形染色体组型。基数x=11则具有4长、2中、5短(或5长、2中、4短)的非二型或非典型二形的染色体组型。x=10的典型不对称的二形染色体组型是原始的组型。基数x=11是从原始的x=10、2n=20组型中的(第5、6号)染色体发生不等长易位后,增加了一对短小的中着丝粒染色体而形成的。另一个x=10、2n=20的非二型新组型,可能从x=11组型丢失了短小的中着丝粒染色体衍生而来,也可能从易位后的个体所产生的不含中着丝粒染色体的雌、雄n配子结合而得到。     

Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).

The 11q;22q translocations, whatever the breakpoints may be, are of particular interest because of their propensity to 3:1 segregation of the chromosomes at meiosis I. Until now, no unbalanced karyotype resulting from 2:2 adjacent segregation was published among offspring of 11q;22q translocation carriers. The authors report the case of an unbalanced karyotype due to adjacent 1 segregation of a maternal translocation (11;22)(q23.3;q13.2). The proband's karyotype was 46,XX,-22,+der(22)(11;22)(q23.3;q13.2)mat. This finding demonstrates that adjacent 1 segregation is possible in t(11;22) with breakpoints at 11q23 and 22q13, and can lead to birth of viable infants.     

An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development.

A 40-year-old white woman underwent amniocentesis for advanced maternal age at 15.4 weeks gestation. Fetal chromosome analysis demonstrated two distinct cell lines: [46,XX,t(1;19)(p11;p11)]--10%; and [47,XX,t(1;19)(p11;p11) + der(1)t(1;19)(p11;q11)]--90%. The latter karyotype was trisomic for both 1q and 19p. The mother carried the balanced translocation; the father had a normal karyotype. Amniotic fluid alpha-fetoprotein level was elevated and an acetylcholinesterase band was detected. Level II ultrasonography at 17 and 24 weeks revealed several abnormalities, including a large facial cleft and a probable facial teratoma and intracranial tumor. Autopsy following pregnancy termination confirmed the presence of both. Chromosome evaluation of 172 metaphases of both the epignathus and the intracranial teratoma demonstrated a predominance of the cell line with 47 chromosomes (166/172 = 96.5%), while from nonteratoma tissue (lung, liver, skin, and brain) only the balanced karyotype was detected. These observations suggest that the chromosomal imbalance is instrumental in the etiology of the teratoma.     

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte

Summary Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.     

Comparative analysis of the karyotype of new human cell line 4BL at long-term cultivation: Ploidy of the chromosomal set

Long-term cultivation of human cells, including stem cells, can lead to essential transformations of the karyotype and genetic instability. The aim of this research was a comparative cytogenetic study of the karyotype of new human stem cell line 4BL at 160 and 205 passages. During a standard cytogenetic examination, the nullisomy and monosomy of chromosomes 10 and 13, monosomy of chromosomes 4, 8, 11, 15, 17, 21, and X; and t(1, 11), t (5, 15), t(12, 15), and t(16, 21) were observed; also, six regular marker chromosomes were detected. At 160 and 205 passages, the modal class of the karyotype was 42–43 chromosomes. While passaging increased frequency of polyploidy cells (from 2.8 to 36%), disappearance of nearhaploid cells (22.1% at the 160th passage) and a decreased level of early division of chromatids (from 5 to 1.5%) were observed. We assume the stabilization of the karyotype of cell line 4BL at 205 passages and consider that it is necessary to conduct an additional molecular and cytogenetic study for the objective identification of the number of chromosomes of the modal class, as well as the number of chromosomal anomalies, and for forecasting the direction of the karyotype evolution of human cells 4BL in vitro.     

Comparative analysis of autosomes in karyotypes from pig and rabbit using RBG-banding and in situ hybridization

The chromosomal location of the porcine gene for glucose phosphate isomerase (GPI) was previously mapped to 6p 12----6q21 in the pig karyotype. The replication patterns and morphology of this chromosome are very similar to those of chromosome 14 in the rabbit karyotype. With combined in situ hybridization and RBG-band induction it was demonstrated that the porcine GPI-probe hybridized most frequently to 14p11----14q12 in the rabbit karyotype, indicating a close relationship between morphology, replication pattern and gene location.     

中国烟蚜不同地理种群的核型多态性研究(英文)

对中国不同地区 (湖南郴州、吉林长春、河南宜阳和江苏南京 )取食烟草的不同生活史的烟蚜Myzuspersicae (Sulzer)核型研究结果表明 :在红色型和褐色型中发现 4种染色体组型 ,即 2n =12 ,A1 与A3易位 ;3n =18,A1 与A3易位 ;3n =18,正常 ;2n =11。在黄绿色型中仅发现 2种染色体组型 ,即 2n =12 ,正常和 2n =12 ,A1 与A3易位。在 2n =12核型中 ,不同地区不同体色的烟蚜其染色体相对长度差异不显著 (α =0 .0 5)。     

Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

A new male patient associated with a pregnancy wastage was detected in China. Cytogenetic analyses including G-banding, chromosome painting and observation of synaptonemal complexes (SCs) demonstrated that the pregnancy wastage was associated with a balanced reciprocal translocation t(11;18) (q13.3; q23). The proband was the carrier of the translocation and his karyotype was 46,XY,t(11;18)(11pter-->11q13.3:: 18q23-->18qter; 18pter-->18q23::11q13.3-->11qter). The pedigree was analyzed based on a G-banded karyotype of the nine familial members. The translocation chromosomes came from the proband's mother. The result of the SC observation in the proband showed that each of the spermatocytes displayed one quadrivalent during their pachytene stages. In the quadrivalents, there existed homologous and nonhomologous synapses and the latter occurred widely during early, middle and late pachytene stages. The reasons and genetic basis of the pregnancy wastage are discussed.     

Maternally transmitted extra ring(21) chromosome in a boy with Down's syndrome

Summary An 11-month-old boy with typical Down's syndrome is presented. His karyotype was 47,XY,+r(21); the erythrocyte superoxide dismutase-1 (SOD-1) activity was elevated. His phenotypically normal mother showed 46,XX,r(21) karyotype and normal SOD-1 activity. Analysis of chromosomal heteromorphism revealed that in addition to the ring, a normal chromosome 21 was transmitted from the mother.     

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder

Congenital Complex Chromosome rearrangements (CCRs) compatible with life are rare in humans. We report a de novo CCR involving chromosomes 8, 11 and 16 with 4 breakpoints in a patient with mild dysmorphic features, acquisition delay and psychotic disorder. Conventional cytogenetic analysis revealed an apparently balanced 8;16 translocation. Further FISH analysis with WCP 8 and WCP 16 probes revealed the presence of a third chromosome involved in the translocation. The multicolour karyotype confirmed the complexity of the rearrangement and showed that the derivative chromosome 8 was composed of 3 distinct segments derived from chromosomes 8, 16 and 11. The breakpoints of this complex rearrangement were located at 8q21, 11q14, 11q23 and 16q12. Comparative genomic hybridization (CGH) and array-CGH were performed to investigate the possibility of any genomic imbalance as a result of the complex rearrangement. No imbalance was detected by these two techniques. Our study showed: i) the necessity to confirm reciprocal translocations with FISH using painting probes, particularly when the karyotype resolution is weak; ii) the usefulness of multicolour karyotype for the characterization of structural chromosomal rearrangements, particularly when they are complex; iii) the usefulness of CGH and array-CGH in cases of abnormal phenotype and apparently balanced rearrangement in order to explore the breakpoints and to detect additional imbalances.     

中国苹果属植物核型研究

本文对11种苹果属植物染色体核型进行了研究。结果表明:在山荆子系中,山荆子(Malus baccata)、毛山荆子(M. mandshurica)较原始;在苹果系中,新疆野苹果(M. sieversii)较苹果(M. pumila)为原始。     

Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11

We describe a boy with the classical Prader Willi syndrome (PWS), clinically, who had a chromosome abnormality not previously described in PWS. The karyotype was 47,XY,+mar, var(15)(p11). The marker was a fragment of 15 from 15pter----q12 and the variant 15p11 was de novo in origin. Overall, this karyotype contains increased 15 heterochromatin and we discuss alteration in the amount of 15 heterochromatin in PWS.     

金花茶组培苗的核型分析

本文对金花茶(Camellia chrysantha (Hu) Tuyama)组培苗的染色体核型进行了研究。结果表明:金花茶组培苗不仅染色体数目与其野生种相同,2n=30,而且核型也基本一致,核型公式均为2n=2x=30=22m+8sm(2SAT)。这些数据为利用组织培养方法保存和繁殖金花茶的可行性提供了细胞学方面的依据。     

The 11q- syndrome: Another case report

Summary The clinical findings and development progress of a female infant with karyotype 46,XX,del(11)(q23) are described. Comparison is made with five other reported cases, and the suggestion of a new syndrome del 11q-is supported.     

二倍体石蒜在安徽发现

本文以根尖细胞为材料,观察了石蒜Lycoris radiata(L′Her．)Herb．三个不同居群植物的染色体数目和核型,发现石蒜为一复合体,包括两种不同类型：(1)三倍体类型,主要包括一群以鳞茎无性繁殖的园艺栽培植株,其染色体数目和核型为2n＝33=33t(st),属“4A”核型,且极其稳定。(2)二倍体类型,主要包括一群野生植株,变异较大,我们发现有下列几种情况：一是芜湖产石蒜(L．radiata)的野生材料,其染色体数目和核型为2n=21+1B=1m+12st+8t+1B,属“3A”核型,在石蒜种内迄今未见有类似报道;另一是黄山产野生材料,观察到两个细胞型,绝大多数细胞为2n=22＝12st+1Ot,极个别细胞出现2n＝22+1B=6st+14t+2T+1B的情况,均属“4A”核型。芜湖和黄山野生材料的染色体数目和核型均为首次报道。石蒜(L．radiata)的二倍体类群也是首次在安徽发现。     

中国蜘蛛抱蛋属的细胞分类学研究Ⅱ

报道了 11种蜘蛛抱蛋属植物的染色体数目和核型。结果如下 :伞柱蜘蛛抱蛋 ** ,2 n=36 =2 0 m+6 sm(2 sat) +10 st,属 2 C型 ;辐花蜘蛛抱蛋 ** ,2 n=38=2 2 m+6 sm(2 sat) +10 st,属 2 C型 ;棒蕊蜘蛛抱蛋 **,2 n =36 =18m +8sm (2 sat) +10 st,属 2 C型 ;柳江蜘蛛抱蛋 **,2 n=38=2 0 m +6 sm(2 sat) +12 st,属 2 C型 ;小花蜘蛛抱蛋 ,2 n=38=16 m +4sm +8st (2 sat) +10 t,属 3C型 ;线叶蜘蛛抱蛋 ** ,2 n=36 =2 0 m(2 sat) +16 st,属 2 C型 ;罗甸蜘蛛抱蛋 ,2 n=38=16 m+6 sm(2 sat) +16 st,属 2 C型 ;四川蜘蛛抱蛋 ,2 n=38=2 4 m +4sm+10 st (2 sat) ,属 2 C型 ;广东蜘蛛抱蛋 ,2 n=36 =18m +2 sm(2 sat) +16 st,属 2 C型 ;洞生蜘蛛抱蛋 **,2 n=36 =18m +2 sm(2 sat) +14st+2 t,属 2 C型 ;大花蜘蛛抱蛋 ,2 n=36 =16 m+6 sm(2 sat) +14st,属 3C型。其中棒蕊蜘蛛抱蛋、柳江蜘蛛抱蛋、线叶蜘蛛抱蛋和洞生蜘蛛抱蛋的染色体数目和核型以及广东蜘蛛抱蛋的核型均为首次报道。     

Molecular analysis of chromosome region 11p13 in patients with Drash syndrome

Summary The association of nephropathy, Wilms' tumour and genital abnormalities is known as Drash syndrome. Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p1S. We have carried out karyotypic and molecular studies in 10 Drash patients, 5 males and 5 females. All the males had a 46XY karyotype as did 3/5 of the phenotypic females, the other two having a 46XX karyotype. One of the 46XX females also had a deletion of region 11p13–p12, the only detectable autosomal chromosome abnormality in any of the patients studied. Lymphoblastoid cell lines were prepared from 6 of the Drash patients and were used in dosage studies using a variety of DNA probes from the 11p13 region. There was no evidence of microdeletions in any patient with a normal karyotype. Because of the 46XY karyotype in phenotypic females, selected X and Y chromosome loci were analysed and all found to be normal. Although Drash syndrome is likely to be of genetic origin, there are no readily detected deletions within the 11p13 region.     

Deletion - translocation del (12) (p11) leads to (t10;12) (p13;pII).

Renewed examinatinon with improved banding techniques of a boy previously reported to have the karyotype 46, XY,del(12)(p11) revealed a translocation 46, XY,t(10;12)(p13;p11), and reexamination of a boy previously reported to have the karyotype 46,XY/46,XY,del(5)(p13) showed the same mosaicism, but with a significantly lower frequency of cells with del(5)(p13), 8% compared with 23% at the time of birth. The decrease of the frequency of cells with chromosome abnormality in mixoploids during the first years of life as found in the present case as well as in prevously reported cases is discussed.     

复杂染色体重排的女性携带者与她健康的女儿

一例新生复杂染色体重排的女性携带者（complex chromosome rearrangement ,CCR）,易位涉及1号、5号和12号染色体。病人因2次自然流产而要求进行外周血淋巴细胞G显带核型分析。最初G显带核型疑为46,XX,t(1;5;12)(1pter→1q25::12q24→12qter;5qter→5p11::1q25→1qter;12pter→12q24::5p11→5pter).经荧光原位杂交（FISH）技术检测,证实患者的核型为46,XX,t(1;5;12)(1pter→1q23::12q22→12qter;5qter→5p11::1q25→1qter;12pter→12q22::1q23→1q25::5p11→5pter).7年后病人再次妊娠,并拒绝产前诊断。女婴足月分娩,生长发育正常。核型为46,XX。比较以前报告的女性复杂易位携带者与我们报告的病例可以认为,CCR并不总是表现为自然流产或分娩畸形儿,仍有机会生出正常的孩子。Abstract: We reported in the paper one case of a de novo complex chromosomal rearrangement (CCR) involving three different chromosomes,1, 5 and 12. Two pregnancies of the female carrier over three years resulted in two spontaneous abortions. Initial cytogenetic analysis of her peripheral lymphocyte by G banding suspected a karyotype 46,XX,t(1;5;12)(1pter →1q25::12q24→12qter;5qter→ 5p11::1q25→1qter;12pter →12q24::5p11→5pter). Fluorescense in -situ hybridization (FISH) was used to confirm the karyotype 46,XX,t(1;5;12)(1pter→1q23::12q22→12qter;5qter→5p11::1q25→1qter;12pter→12q22::1q23→1q25::5p11→5pter). Seven years later she was pregnant again and refused to have prenatal diagnosis. The fetus is normal both in phenotype and karyotype。Comparing previously reported female CCR carriers with the case, we conclude that female CCR carriers may not always present spontaneous abortion or have offspring with congenital malformation and can have chance to get a healthy child.