罕见的45,X/46,XX/47,XX, t(Y;Y)的两性畸形一例报告

由性染色体异常引起的性畸形较为常见。无论是性染色体数目异常、结构异常,纯一的、还是嵌合体,核型多样,临床变异很大。1977年Jean de Grouchy在其总结的人类染色体异常中,罗列有47,XX,i(Yq)/46,XX/45,X的真两性畸形,但与本例45,X/46,XX/47,XX, t(Y;Y)核型和临床表现均不相同。现将其临床和细胞遗传学研究以及病理检查结果报告如下。     

45,X/46,XXr嵌合体

本文报告一例45,X/46,XXr嵌合体。患者徐××,表型女性,25岁,未婚。继发闭经,因阴蒂肥大而要求入院手术,维持女性。术中发现子宫为幼儿型,小而薄。右侧卵巢和输卵管缺如。左侧圆韧带薄而松弛。左侧输卵管长度正常但很细,卵巢小而薄。     

An XX male with a 46,XX/47,XX,+Y(q12→qter) karyotype

Summary We describe a male with the karyotype 46,XX/47, XX,+Y(q12qter), which may be interpreted as due to an insertion (Y;X)(Yq11Yq12;Xp22) or to mosaicism, 46,XX/47, XX,+Y(12qter). In any case, some of the H-Y determining genes may be located on the long arm of the Y chromosome.     

45,X/46,X,idic(X)/47,X,idic(X),idic(X)嵌合体核型的研究

最常见的人类X染色体的结构异常是长臂等臂X染色体,以及X染色体与常染色体之间的易位。关于idic(X)染色体结构异常的病例较为罕见。国外Chapella等曾有研究,国内周氏等首次报道了有关idic(X)染色体结构异常的病例。     

G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?)

Mos 45,X/46,X,r(?) in 4 patients with Turner's syndrome and no signs of virilization, and in one pair of monozygotic twins, one of them with clitoral hypertrophy, was studied using combined cytogenetic techniques and specially G-11 staining for the characterization of the X or Y origin of the rings. In all 6 patients the ring was G-11 positive, attesting its Y origin. Both twins were operated and bilateral streak gonads with a bilateral nodule of testicular tissue were found. Similar small rings were also studied in one patient with mos 46,XX/46,X,r(X) and in one nonvirilized Turner's syndrome patient with a larger ring; in these two cases the ring was G-11 negative. It seems that the small rings occasionally found in Turner's syndrome are more frequently from Y origin and therefore prophylactic gonadectomy should be considered.     

A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype

Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromosome fragment detected in the investigated animal was the result of a deletion of a euchromatic fragment comprising the above-mentioned markers.     

45,X/46,XY qh? Karyotype and Aspermia. A case report

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh^?. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed.     

Gonadendysgenesie mit ungewöhnlicher Strukturanomalie eines X-Chromosoms (45,X/46,XXq+)

Zusammenfassung Bei einer 29jährigen Frau mit sekundärer Amenorrhoe wurde ein 45,X/46,XXq+-Mosaik gefunden. Der Zellstamm mit der Modalzahl 46 enthielt ein spätreplizierendes abnormes X-Chromsom, das morphologisch der Gruppe B zugeordnet wurde. Die gering ausgeprägten Entwicklungsstörungen und die endokrinologischen Befunde, die auf rudimentäres Ovarialgewebe schließen lassen, werden auf den Effekt der 46/XX+-Zellinie zurückgeführt die, ähnlich einer normalen 46,XX-Zellinie, die Ausprägung der XO-Komponente abschwächt.

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Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X/46,XXq+)

Summary A 45,X/46,XXq+ mosaic was found in a 29-year-old woman with secondary amenorrhea. The cell-line with the modal number 46 contained a late replicating abnormal X chromosome which was morphologically assigned to group B. The slight developmental disturbances and the endocrinological findings, which indicate rudimentary ovarian tissue are ascribed to the effect of the 46,XXq+ cell-line, which, like a normal 46/XX line, weakens the effect of the XO component.

     

X,Y精子分离技术的进展

自本世纪伊始,就有许多有关分离X精子(具有X染色体的精子)和Y精子(具有Y染色体的精子)的研究报告.近年来,美国、日本等国相继报道分离人和牛的X、Y精子获得成功,然而其实验效果的重复性极低.本文仅就最近有关X、Y精子的分离研究进展情况作以扼要的介绍.     

一例45,X/46,XY嵌合型Turner综合征的临床和细胞遗传学研究

本文报道了一例45,X/46,XY嵌合型Turner综合征的病例,并进行了外周血淋巴细胞、两侧性腺及皮肤成纤维细胞培养及其核型分析。对核型及表型的关系,肿瘤的发生率以及45,X/46,XY嵌合体息者的性腺发育和分化,进行了讨论。     

A point mutation,R59G,within the HMG-SRY box in a female 45,X/46,X,psu dic(Y)(pter→q11::q11→pter)

We report a molecular and cytogenetic investigation of a psu dic(Yp) chromosome identified in blood and ovarian tissue from a female with mosaic karyotype 45,X/46,X,+ psu dic(Yp). FISH analysis showed that the psu dic(Yp) has two copies of the short arm, two centromeres and two copies of the proximal long arm. PCR analysis also confirmed the presence of the SRY gene and the Y centromere, and also confirmed the deletion of the Y-heterochromatic region. Because of the possibility of a mutation, a fragment of 609 bp of the SRY gene was sequenced from independent PCR products. The analysis of the sequence indicated the presence of two different copies of the gene: one presented a point mutation, R59G, within the HMG-box; the other had a sequence identical to that already published. Both sequences were found at a proportion of 1:1. The absence of a 46,XY cell line suggests that the rearrangement took place during gametogenesis or during the first division after fertilization. Also, the existence of different sequences of the SRYgene in the same Y chromosome suggests that the formation of the dicentric took place prior to the mutation of the SRY gene. To our knowledge, this is the first time that a mutation has been described in codon 59 within the HMG- SRY box, and also the first case of a psu dic(Yp) chromosome that displays two different copies of the SRY gene.     

46,X,t(Y;Y)(p1I;p1I）合并无精症一例报告

患者男性,28岁。因婚后3年不育而就 诊。患者为头胎足月顺产。其母孕期无有害物 质或放射线接触史,无发烧及病毒感染史,无服 药史。其父母非近亲婚配。家族中无不育或多 发畸形及智力低下者。患者共兄弟3人,其两 个弟弟均已结婚,并有正常生育能力。其妻作 过各项不孕症检查,未见异常。     

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter→p22::p22→qter))

Summary A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.This work was supported by grants from the Institut National de la Santé et de la Recherche Médicale (C.R.L. 75-10-42-24) and from the C.R.E.M.A.G.     

孕早期产前诊断46,XX,rec(4)和46,XY,inv(4)及其家系的细胞遗传学研究

本文报道了用绒毛细胞直接制备染色体的方法,诊断出一个家系中3例染色体异常胎儿。一例核型为:46,XX,rec(4),dup p,inv(4)(P12 q35)pat;另外两例核型为:46,XY,inv(4)(p12 q35)Pat。对此家系2代中8人进行了染色体检查。其中3人核型为46,XY,inv(4)(P12q35)。3例胎儿的异常染色体是来自他们的父亲(4号染色体臂间倒位携带者)。并讨论了臂间倒位染色体携带者对后代的影响。     

一例罕见的X—常染色体平衡易位[46,X,t(Xq~+;15q~-)]伴发自然流产

有关夫妇一方为平衡易位携带者所致流产、死胎及先天性多发畸形的情况,近年来多见报道,并日益引起妇产科医师和医学遗传工作者的重视。绝大多数平衡易位发生在常染色体与常染色体之间,极少发生在X染色体与常染     

一例46, X,i(Xp）引起的过早绝经

我们从妇科门诊检查1例曾有过月经史、 妊娠史的继发性闭经患者，经细胞遗传学研究， 首次检出46, Xi(Xp)o 46, X, i(Xp）是Turners 综合征中的一种表现形式，所查阅的国内外文 献尚未见到类似报道。现报告如下。     

罕见的45, XY,t (14gl4q), 45,XX,t (13gl3q)致习惯性流产两例报告

本实验室发现两例十分罕见的同源染色体之间的罗式易位病例,核型分别为45,XY,t(14gq14q), 45,XX, t(13q13q）现报告如下。     

Center for barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter→ p22::p22→qter)

Summary An 11-year-old girl with karyotype 45,X/46,X,dic(X) (Xqterp22::p22qter) is presented. The abnormal X is always found to be the inactive and late replicating X, and according to previous investigations by Therman et al. (1974) part of the cells are seen to have bipartite Barr bodies.     

罕见的45,XY,t(14q14q)、45,XX,t(13q13q)致习惯性流产两例报告

本实验室发现两例十分罕见的同源染色体之间的罗式易位病例,核型分别为45,XY,t(14q14q)、45,XX,t(13q13q)现报告如下。 病例报告 例1:男,28岁,汉族,其妻子30岁,孕早期自然流产4次(孕8周1次,孕7周3次),妇科检查未见异常,诊断为习惯性流产。外周血淋巴细胞染色体检查:共分析30个分裂相,每