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Two populations of phenotypic males, twelve 47,XYY and twelve 47,XXY patients, when compared for behavior disability, sexual practices, and social interaction, revealed that the XYY males had behavior disability involving a predominance of impulsive acting out and poor long term planning. By contrast, the XXY males manifested a deficiency or inhibition of action. With regard to sexual practices, the XYY males reported a greater frequency and diversity of sexual experience and imagery than did the XXY males, who appear to be sexually inert by comparison. For both XYY and XXY men, being alone took preference over group participation. The XXY men were more characterized by inertia and reclusiveness, while the XYY men were mobile and more likely to intrude on other people and their property.

A family with a C/G, probably 6/21, translocation chromosome was ascertained through a case of Down's syndrome. Genetic linkage analysis yields a possibility of localization of the Gm locus on autosome 6.

Examination by light microscopy of cells of various constitutions with one Y, two Ys, or no Y was made by six experienced cytogeneticists in order to ascertain accuracy in identification of the Y chromosome by morphologic criteria. Results showed that this approach is subject to error, especially if the quality of the spreads is not very good. Refined techniques and/or additional information appear to be essential.

Independence of left and right dermal pattern areas were examined in Down's syndrome patients and controls. A composite score was then developed as a laboratory test to confirm the clinical diagnosis of Down's syndrome. The score demonstrates better discrimination by correctly scoring 97.7% of the individuals tested whereas the single pattern scoring method correctly scored 96.6%. An element of simplicity is also gained by using composite scores. It corrects in part the error due to correlation of the occurrence of patterns on the two sides.

ABSTRACT: The objective of this study was to review the results of our policy of primary radiotherapy (RT) and salvage cystectomy for transitional carcinoma (TCC) of the bladder in the light of changes in our radiotherapy planning procedure, in particular the introduction of CT planning. The case notes of 163 patients treated with radical radiotherapy using a CT planning technique were examined. The main endpoint for assessment was response at the time of the check cystoscopy 6 months after the completion of treatment. In addition survival was estimated by stage of disease and by response at the time of first cystoscopy. Patterns of relapse and time to relapse were analysed. All percentages quoted in the text use the initial 163 patients as the denominator. One hundred patients (61%) achieved a complete response. The complete response rate was significantly related to T stage at presentation being 90% for TI, 75% for T2, and 53% for T3 disease respectively. Of these patients 78 remain disease free in the bladder (47%). Twenty-two have relapsed in the bladder, of whom 5 have also relapsed at metastatic sites. Fifteen patients have relapsed outside the bladder whilst remaining disease free within the bladder. At the time of last follow up or death from other causes 63 of the 100 patients who had a complete response remained disease free with an intact bladder. There were 18 (11%) partial responders. Seven of these patients went on to have a cystectomy. Ten remain alive, 7 disease free, 4 with intact bladders. In 24 patients (15%) there was no response and these patients have all died, the median survival being 10 months. In 21 patients (13%) a postradiotherapy cystoscopy was not performed. In all but one patient, who was lost to follow up, this was because of progressive disease. The median survival of these 20 patients was 6 months. Of the 163 patients 35% are alive and well with an intact bladder. If patients dying from other causes are included then 42% were rendered disease free. Cause specific survival was significantly related to stage of disease at presentation with 5 year actuarial survival being 87%, 48% and 26%, for T1, T2 and T3 disease respectively. Survival was also related to response to treatment at 6 months with 5 year survival being 64%, and 52% for complete and partial responders respectively. Survival was extremely poor for non-responders with only 37.5% surviving 1 year and none 5 years. There was a highly significant relationship between response and the development of, and the time to developing metastatic disease. Of those who exhibited a response 21% developed metastatic disease compared to 78% of non-responders. Salvage cystectomy offers the possibility of cure in those who achieve a complete or partial response with 42% of such patients being rendered disease free. Results however are poor in those who did not respond with all patients dying of their disease. Response rates for all stages, and survival for stages T1 and T2 are much improved from those previously reported from this centre and compare favourably with other published series. These results confirm the place of radiotherapy and salvage cystectomy in the management of TCC of the bladder in selected patients. In about one-third of patients the desired outcome of curing the patient of their cancer with organ preservation is achieved. The prognostic significance of cystoscopic response at 6 months and stage at presentation is confirmed. The outcome for patients with early stage disease is excellent. The relationship between response and the development of metastatic disease would suggest that even if these patients had had a primary cystectomy they may have fared badly, a conclusion supported by the fact that these results are comparable with surgical series. This series supports the role of radiotherapy in the management of this disease and suggests that modern RT techniques including CT planning have had a beneficial effect on the results of radical radiotherapy.

BACKGROUND Renal medullary carcinoma is a newly described, aggressive kidney tumor. All patients with the disease have been African-American with sickle cell (SC) trait or hemoglobin SC disease. METHODS Patient information was obtained from individual patient records and from the Department of Defense national data bank, The Defense Enrollment and Eligibility Reporting System. Data were obtained from either personal review of the patient's records or from discussion with the patient's physician. Cytogenetic studies were performed on one patient. RESULTS Six patients are presented. All had SC trait. Median age was 24.5 years, and 1 patient was female. Time from diagnosis to death averaged 3 months (range: 1–7 mos). No objective responses were reported to a wide variety of chemo and immunotherapies: cyclophosphamide, doxorubicin, cisplatin; methotrexate, vinblastine, doxorubicin, and cisplatin; single agent interferon; single agent paclitaxel; or single agent vinblastine. Investigational regimens included topotecan, doxorubicin, and filgrastim; α-interferon, interleukin-2, and 5-fluorouracil; and single agent paclitaxel. Cytogenetic studies revealed numerous structural, as well as numerical anomalies. Of the cells successfully karyotyped (n = 4), 2 contained abnormalities of chromosome 3 and all contained monosomy 11. CONCLUSIONS Renal medullary carcinoma is an aggressive, chemoresistant tumor. Time from discovery of tumor to patient death is very short and has not been altered by a wide variety of chemotherapies and immunotherapies. An unidentified genetic component is likely present. Cancer 1996;78:128-32.

My appointment at Johns Hopkins and my association with Victor McKusick started in the early 1960s. It was an enormously beneficial association for my career, for my daughter’s health, and for my whole family. Victor’s support and encouragement were helpful when I started the International Registry (later changed to “Repository”) of Human Chromosomal Abnormalities. This brief contribution describes Victor’s professional attitude, his great humanity, and his loyalty toward his colleagues.

Renal medullary carcinoma is a newly described, aggressive kidney tumor. All patients with the disease have been African-American with sickle cell (SC) trait or hemoglobin SC disease.Patient information was obtained from individual patient records and from the Department of Defense national data bank, The Defense Enrollment and Eligibility Reporting System. Data were obtained from either personal review of the patient's records or from discussion with the patient's physician. Cytogenetic studies were performed on one patient.Six patients are presented. All had SC trait. Median age was 24.5 years and 1 patient was female. Time from diagnosis to death averaged 3 months (range 1-7 mos). No objective responses were reported to a wide variety of chemo and immunotherapies: cyclophosphamide, doxorubicin, cisplatin; methotrexate, vinblastine, doxorubicin, and cisplatin; single agent interferon; single agent paclitaxel; or single agent vinblastine. Investigational regimens included topotecan, doxorubicin, and filgrastim; alpha-interferon, interleukin-2, and 5-fluorouracil; and single agent paclitaxel. Cytogenetic studies revealed numerous structural, as well as numerical anomalies. Of the cells successfully karyotyped (n=4), 2 contained abnormalities of chromosome 3 and all contained monosomy 11.Renal medullary carcinoma is an aggressive, chemoresistant tumor. Time from discovery of tumor to patient death is very short and has been altered by a wide variety of chemotherapies and immunotherapies. An unidentified genetic component is likely present.

A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation.

This is a report on a patient with the karyotype 46, XX, -13, +r(13), and a review of the literature on the ring 13 (r13) chromosome. We have used two computerized data bases for a search of information on the r (13) chromosome syndrome. We have analyzed the data on 39 patients (subjects) all of whose karyotypes included r (13). We have especially searched for helpful data for physical features and counseling of families in whom this subject may appear: multiple birth defects, natural history, management problems, and correlation with cytogenetic results. The 39 cases reviewed here, which include r (13) in the karyotypes, correlate best with Niebuhr's Category I of 13q-subjects, and in a few instances, with Category II. Occasional cases have features of Trisomy 13.

The pituitary, adrenal, and gonadal functions of nine males (six XY, two XYY, and one XY/XYY) were studied after at least 6 months of medroxyprogesterone acetate (MPA) therapy for antisocial or sex-offending behavior. Five were studied both before and during therapy, four only during therapy. MPA was effective in decreasing serum gonadotropin and plasma testosterone concentrations. MPA caused no change in the 24-hour rhythm or total integrated concentration of growth hormone. The plasma cortisol circadian rhythm was suppressed but not obliterated by MPA therapy. Although a significant decrease (P

We report on an infant with a 69,XXY chromosome constitution who survived for 10 1/2 months; this is the longest survival reported with this condition to date. The infrequency of this disorder, data on natural history, and improved survival, possibly due to better management of respiratory illness and prematurity, are all factors worth noting in counseling on such rare conditions. Genotyping demonstrated the extra genome to be of maternal origin.

This is a paper about the relationship of stigmatization to social class in XYY individuals, and of this relationship to manifestations of agressive behavior. The sample comprised 15 men and youths with the XYY syndrome; 8 were identified in a survey of institutions for males with behavior disorders and 7 were privately referred. All had been stigmatized by physique and appearance and/or behavior. The most frequent stigmatizing features were excessive height for age, excessive impulsiveness in behavior, and excessive temper tantrums in childhood; these were present in all cases. Antisocial or law-breaking behavior was present in 13 cases. Stigmatization did not correlate with socioeconomic class, rated according to the Shevky and Bell scale as modified to suit the study. However, the consequences of stigmatization were class related in that the lower the class, the greater the chance that the XYY individual would spend time in the penal as well as the medical system of society.

Karyotypes are reported from 21 spider monkeys distributed among five taxa of the genus Ateles.G- and C- banding techniques revealed variations between taxa. Two variants were discovered for chromosome 5, for chromosome 7, and for the Y chromosome. Four forms of chromosome 6 were seen. The variations are all probably pericentric inversions. One individual was heteromorphic at position 6. The data are compared with prebanding reports of Ateleschromosomes and reports of five animals studied with banding techniques. The variation in Ateleschromosomes is similar in degree to that found in other ceboid genera. The variants may be related to forest refugia formed during the Plio-Pleistocene. Karyotyping of many New World primates is required to ensure a homogeneous experimental group.

Segregation analysis of the offspring of balanced translocation carriers was performed on 327 pedigrees collated from published sources and personal communications. Correction was made for bias of ascertainment. Translocations studied involved chromosome arms 1p, 4q, 6p, 6q, 7p, 8p, 10p, 10q, 11q, 14q, 16q, and 17p. Findings included similar rates of occurrence of abnormal liveborn offspring in male and female carriers except for a reduction of risk in male carriers of translocations segregating by 3:1 mode; an elevated risk of fetal loss (spontaneous abortions and stillbirths) in female carriers of 6q, 11q, and 16q translocations compared to male carriers of these translocations; a fetal loss rate exceeding general population estimates in female carriers of 6q and 10q translocations and in male carriers of 6p, 8p, 10q, and 14q translocations including a rate of nearly 50% among female 6q translocation carriers; a higher than expected number of balanced carriers among liveborn offspring; and a low risk of abnormal liveborn children among carriers ascertained by means other than through unbalanced probands. We propose that some translocation carriers may be helped by consideration of more specific empiric risk figures than have traditionally been used.

A number of individuals with aberrant Y chromosomes have been tested for the presence of Y-chromosome-specific reiterated DNA. These studies locate Y-chromosome-specific reiterated sequences on the long arm of the Y chromosome. Correlation with phenotype and other known Y chromosome markers establish that the Y-chromosome-specific reiterated DNA discussed here has no evident role in male determination.

Variations in dermal patterns have been reported between the sexes and among ethnic groups. The hypothesis that our diagnostic scoring method for Down syndrome overrides such variations was tested. A

Data on fifty-three patients with 48, XXYY chromosome complement were collected from the literature and personal correspondence and reviewed with the objective of delineating a ‘uniform phenotype.’ Although no single stigma was found to be characteristic of the 48, XXYY males, tall stature, low upper segment/lower segment ratio, mental retardation, and behavior problems in a phenotypic male (including prepubertal age group) should raise the question of a 48, XXYY chromosome basic defect. In the majority of cases testicular biopsies revealed varying degrees of atrophy, levels of FSH were elevated, and 17 KS were low to normal, both characteristics being comparable to those found in 47, XXY males. Dermatoglyphic changes were found to be reduced total finger ridge count, increased frequency of arches on fingers, presence of a hypothenar pattern, distally placed triradius, and occasional qimian crease.

SUMMARYThe genus Bothriochloa is characterized by chromosome numbers ranging almost continuously in multiples of 10 form 2n = 20 to 2n=180. Chromosome numbers of 2 n = 20, 40 and 60 were encountered in Dichanthium. The genus Capillipedium is characterized by 2n=20, 40 and 50 chromosomes, while representatives of the genera Euclasta and Eremopogon, which were studied, are tetraploids (2n = 40). In these genera diploids (2n = 20) reproduce sexually, tetraploids are mostly facultative apomicts, and higher polyploids are essentially obligate apomicts. Exceptions are the American and some Australian polyploid representatives of Bothriochloa (2n = 60, 80, 120, 180) which reproduce sexually. The diploids are all narrow endemics, the facultative apomicts are widely distributed, and the sexually reproducing as well as apomictic polyploids are usually restricted in their distribution range.

Three men who were referred with the presumptive diagnosis of Klinefelter's syndrome were found to be chromatin-negative and to have normal male karyotypes. On the basis of clinical features, hormonal assays and testicular biopsy, each was found to have a different and distinct form of chromatin-negative male hypogonadism. The differential diagnosis of this heterogeneous group of disorders is discussed and it is concluded that the term "Klinefelter's syndrome" should be limited to those cases in which buccal smears are chromatin-positive and karyotypes abnormal. If a hypogonadal male subject is found to be chromatin-negative and to have a normal male karyotype, a clinical re-evaluation with hormonal assays and testicular biopsy should be performed to establish an accurate diagnosis.

1. Hybrids were produced among facultative apomictic biotypes within Bothriochloa intermedia, B. grahamii, and Dichanthium annulatum. 2. Assumed natural hybrids were euploid and facultative apomicts. 3. Artificially produced F1 and F2 hybrids were either euploid or aneuploid, and some reproduced strictly by sexual means. 4. Sexually reproducing plants usually gave rise to F2 progenies characterized by a high degree of aneuploidy. 5. The absence of truly sexual races in nature was explained on the basis that the over-all apomictic mode of reproduction is inherited as a dominant character over sexuality. 6. The absence of aneuploidy among natural populations suggested that euploids must have a selective advantage over aneuploids.

Chromosome behavior in 2n=20 species of Dichanthium Willemet indicates that they are functional diploids. Tetraploids (2n=40) appear to be segmental allopolyploids. Hybrids between two tetraploid races of the same species or between different species are characterized by 2n=40 or 2n=60 chromosomes. Morphological data indicate that the cytologically reduced as well as unreduced female gamete may be fertilized by a normal male gamete. Both the cytologically reduced as well as the unreduced embryosac in the hybrids may develop parthenogenetically to form viable offspring. From a cytological study of these “polyhaploid” plants and their hybrid parents it becomes clear that autosyndesis is the common mode of pairing in Dichanthium Willemet. It was also established that chromosome pairing may take place within the basic genome (n=10), indicating that the original basic number for the genus could have been n=5.

A total of eleven collections from North and South Dakota belonging to the grass tribe Hordeae were studied in detail to determine the extent of meiotic irregularity. Two collections of Agropyron trachycaulum and Hordeum jubatum were most regular with a high chiasma frequency and all the other nine collections of Agropyron spp., Elymus virginicus, and Hordeum jubatum had several irregularities in their meiotic behavior and varied chiasma frequency. A comparison of the present data with earlier studies shows some differing observations which are attributed to natural hybridization with related taxa.Help rendered by Mr. Peter Bunde and Mrs. Manda Borgaonkar in this study is appreciated.

All apomicts so far studied in the Bothriochloa-Dicanthium complex had some sexual potential, but only a part, and sometimes none, of this potential was realized. The degree of sexuality of an apomict depends upon the synchronization of the various embryological phenomena, almost certainly under complex genetic control. Apomixis or lack of it, however, is probably rather simply inherited and is controlled by no more than one gene per genome. Apomixis was dominant to, but independent of, sexuality. Apomixis and sexual reproduction are not alternative modes of reproduction, either genetically or operationally, but are simultaneous and independent phenomena. The genes controlling normal sexual reproduction are not allelic to those controlling apomixis in the conventional sense. But, in apomicts, the genotype Aa may be assigned in the sense that the A allele induces four-nucleate asexual embryo sac formation and a allele does not. The autonomous parthenogenetic development of embryos in reduced sexual embryo ...

Deux especes d'insectivores,Microgale dobsoni etM. talazaci, ont le meme nombre de chromosomes, 2n=30. Leurs caryotypes respectifs presentent des differences portant sur 2 pairs d'autosomes. Une translocation reciproque, devenue homocygote, permet d'expliquer ces differences. On peut concevoir que la speciation est alors intervenue a la suite d'effets de position, de la sterilite des hybrides et de la preference des porteurs de formules chromosomiques differentes pour telle ou telle «niche» ecologique.

The significance of chromosomal markers in linkage and assignment has been pointed out. The usefulness of linkage in disease prevention is discussed with the limitations of this approach.

The H-Y locus is on the short arm of the human Y chromosome in most individuals but on the long arm in at least one of 17 individuals with structural abnormalities of the Y.