Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Ambiguous genitalia or disorder of the sexual development is a birth defect where the external genitals do not have the typical appearance of either a male or female. Here we report a boy with ambiguous genitalia and short stature. The cytogenetic analysis by G-banding revealed a small Y chromosome and an additional material on the 15p arm. Further, molecular cytogenetic analysis by Fluorescence in situ hybridization (FISH) using whole chromosome paint probes showed the presence of Y sequences on the 15p arm, confirming that it is a Y;15 translocation. Subsequent, FISH with centromere probe Y showed two signals depicting the presence of two centromeres and differing with a balanced translocation. The dicentric nature of the derivative 15 chromosome was confirmed by FISH with both 15 and Y centromeric probes. Further, the delineation of the Y chromosomal DNA was also done by quantitative real time PCR. Additional Y-short tandem repeat typing was performed to find out the extent of deletion on small Y chromosome. Fine mapping was carried out with 8 Y specific BAC clones which helped in defining the breakpoint regions. MLPA was performed to check the presence or absence of subtelomeric regions and SHOX regions on Y. Finally array CGH helped us in confirming the breakpoint regions. In our study we identified and characterized a novel complex Y chromosomal rearrangement with a complete deletion of the Yq region and duplication of the Yp region with one copy being translocated onto the15p arm. This is the first report of novel and unique Y complex rearrangement showing a deletion, duplication and a translocation in the same patient. The possible mechanism of the rearrangement and the phenotype–genotype correlation are discussed.     

A 5q12.1–5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement

Complex chromosomal rearrangements are very rare chromosomal abnormalities. Individuals with a complex chromosomal rearrangement can be phenotypically normal or display a clinical abnormality. It is believed that these abnormalities are due to either microdeletions or microduplications at the translocation breakpoints or as a result of disruption of the genes located in the breakpoints. In this study we describe a 2-year-old child with mental retardation and developmental delay in whom a de novo apparently balanced exceptional complex chromosomal rearrangement was found through conventional cytogenetic analysis. Using both cytogenetic and FISH analysis, the patient's karyotype was found to be: 46,XY,der(5)t(5;7)(p15.1;7q34),t(5;8)(q13.1;8q24.1)dn. A large, clinically significant deletion which encompassed 887.69 kb was detected at the 5q12.1–5q12.3 (chr5:62.886.523–63.774.210) genomic region using array-CGH. This deleted region includes the HTR1A and RNF180 genes. This is the first report of an individual with an apparently balanced complex chromosomal rearrangement in conjunction with a microdeletion at 5q12.1–5q12.3 in which there are both mental-motor retardation and dysmorphia.     

Post-parturial reproduction in terrestrial isopods: a partial review

This review deals with some aspects of terrestrial isopod reproduction including breeding season, breeding periods, patterns and strategies, parturition, number and size of broods and mancae. Reproductive period is described by the exact dates (i.e. season) marsupial females were collected in the field, and the duration of the breeding period. The information for both aspects was generally obtained through field work by observing marsupial females. Two reproductive patterns are used by terrestrial isopods, either a discrete (i.e. seasonal) or a continuous (i.e. non-seasonal) pattern. The discrete pattern can be either annual when females breed once a year, or they can breed biannually or multi-annually (two or more times during the year). This conclusion is based generally on observing marsupial females in the field. Therefore, this information does not apply to the reproductive pattern of the individual female since a female may use either or both patterns, i.e. seasonal and continuous. Only by raising individual females singly (with a male) can this point be clarified. This way, the breeding strategy of the same individual female can be studied. The subject is discussed and reviewed based on my research data.     

Bipolar Disorder with Seasonal Pattern: Clinical Characteristics and Gender Influences

Bipolar disorder (BD) has a multifactorial etiology with heterogeneous clinical presentations. Around 25% of BD patients may present with a depressive seasonal pattern (SP). However, there are limited scientific data on the prevalence of SP, its clinical manifestations, and any gender influence. Four hundred and fifty-two BD I and II cases (62% female), recruited from three French university-affiliated psychiatric departments, were assessed for SP. Clinical, treatment, and sociodemographic variables were obtained from structured interviews. One hundred and two (23%) cases met DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition) criteria for SP, with similar frequency according to gender. Multivariate analysis showed a significant association between SP and BD II (odds ratio [OR]?=?1.99, p?=?0.01), lifetime history of rapid cycling (OR?=?2.05, p?=?0.02), eating disorders (OR?=?2.94, p?=?0.003), and total number of depressive episodes (OR?=?1.13, p?=?0.002). Seventy-one percent of cases were correctly classified by this analysis. However, when stratifying the analyses by gender, SP was associated with BD II subtype (OR?=?2.89, p?=?0.017) and total number of depressive episodes (OR?=?1.21, p?=?0.0018) in males but with rapid cycling (OR?=?3.02, p?=?0.0027) and eating disorders (OR?=?2.60, p?=?0.016) in females. This is the first study to identify different associations between SP and clinical characteristics of BD according to gender. The authors suggest that SP represents a potentially important specifier of BD. These findings indicate that seasonality may reflect increased severity or complexity of disorder.     

Effect of Birth Season on Circadian Typology Appearing in Japanese Young Children Aged 2 to 12 Years Disappears in Older Students Aged 18 to 25 Years

Several studies suggest that season of birth differentially affects the physiological characteristics of humans. Those living at relatively high latitude, such as Canada, Spain, and Italy (44°N–45°N), and born in the fall tended to be “morning-type” persons in comparison to those born in other seasons. There are relatively little data on the affect of season of birth on people residing at low latitude. Here the authors show that at low latitude, Kochi, Japan (33°N), the effect of season of birth on the morningness chronotype is confined to young children aged 1–12 yrs, disappearing in elderly persons. Only female participants aged 2–12 yrs born in the fall, especially in November, were significantly morning-typed (p < .001) in comparison to those born in the other seasons, whereas there were no such significant season-of-birth differences in morningness-eveningness preference among male participants. Moreover, both female and male participants aged 13–25 yrs showed no significant seasonal differences in morningness-eveningness preference. The small effects detected in this study might be due to smaller seasonal change in day length at the relatively lower latitude of Kochi. (Author correspondence: haratets@kochi-u.ac.jp)     

9. LIST OF MEMBERS (as at date of publication)

We studied the breeding ecology of the Chestnut-backed Sparrowlark Eremopterix leucotis over three years between 2008 and 2010. The breeding season was bimodal with a main peak in laying in autumn (March–April) and another smaller peak in spring (September–October). Nest microhabitat analyses showed they prefer nesting in open areas with lots of bare ground (median 67.5%). Nest entrance directions were biased towards the south (mean vector (µ) = 186.44°). The majority of nests (78.2%) had an apron at the nest entrance. The mean clutch size was 1.88 but there was geographic variation in clutch size between northern and southern races of the species. The mean incubation and nestling periods were 10.33 d (range 10–11 d) and 9.20 d (range 8–10 d), respectively. The results suggest that parental contributions during incubation are almost equal, but females made significantly more food deliveries during the nestling period compared to males. The diet of nestlings comprised mainly of invertebrates (50.2%), seeds (34.4%) and unidentified food items (15.4%). Breeding success was low, averaging 16.1% (range 8.1–20.6%), and the average number of fledged young per pair was 0.36 ± 0.71. Replacement broods were common and we also recorded repeat brooding attempts.     

Diversity and abundance of wild host plants of lepidopteran stem borers in two different agroecological zones of Kenya

A survey was carried out between 2004 and 2005 in two ecologically different locations, Kakamega and Muhaka to assess diversity and abundance of wild host plants of lepidopteran stem borers as compared to maize plots during the cropping and non-cropping seasons. Kakamega in Western Kenya is characterized by a Guineo-Congolian rain forest mosaic and Muhaka at the Kenyan coast by a Zanzibar Inhambane mosaic with secondary grassy and woody vegetation. In Kakamega, wild host plants and maize covered 2 and 43% of the surveyed area. No variation in diversity and relative abundance of wild host plants was observed between both the cropping and non-cropping seasons. In Muhaka, the diversity and relative abundance of wild host plant species differed between seasons, with the Shannon Weaver Index (H) of 1.67 and 0.95 for cropping and non-cropping seasons, respectively. Similarly in this location, wild host plant cover varied between cropping (23%) and noncropping (17.9%). During both seasons, this was higher than the maize cover, with 10.7% and 0% for the cropping and non-cropping seasons, respectively. For both localities, the implication of the differences found in the abundance and diversity between the cropping and non-cropping seasons is discussed.     

性别、季节和体型大小对吐鲁番沙虎巢域的影响

2008年6月份至2009年5月份对吐鲁番沙虎的巢域进行调查:2008年6月份至2008年8月份为繁殖季节(RS),2008年9月份至2009年5月份(冬眠期除外)为非繁殖季节(NRS)。利用截趾标志重捕法研究吐鲁番沙虎的巢域,共标记283只吐鲁番沙虎,累计繁殖季节24只,非繁殖季节43只重捕超过3次(其中13只个体在繁殖季节和非繁殖季节均够3次以上捕捉次数,为重复个体),可以用于计算个体巢域面积数据。利用软件MapGis计算最小凸多边形法(MCP)巢域面积,并分析性别、体型大小、季节等因素对巢域的影响。结果表明:吐鲁番沙虎非繁殖季节雄性、雌性与幼体各组间的巢域面积差异均显著,繁殖季节巢域面积差异不显著;雌雄个体不同季节或全年合并比较巢域面积差异性均不显著;非繁殖季节面积与吻肛长(SVL)显著相关、全年成体组的巢域面积与吻肛长显著相关;成体巢域面积季节差异显著(U=41,P=0.046),幼体则没有季节差异(U=159,P=0.537)。因而,吐鲁番沙虎的巢域大小受性别因素影响不大,体型大小对巢域面积有显著影响,由于繁殖、食物资源等的季节变化是影响吐鲁番沙虎巢域最重要的因素。     

中国北方春小麦生育期变化的区域差异性与气候适应性

利用北方18个农业气象观测站春小麦主要发育期和气象观测等资料,通过相关性分析等方法,研究了北方春小麦生育期间气候和发育期变化特点及发育期变化区域差异性形成原因。结果表明,我国北方春小麦生长季普遍增温,大部分观测站春小麦生育期间和灌浆期的平均气温显著升高,有效积温显著增加,生育期显著缩短。然而,稳定通过0 ℃初日没有显著提前,表明增温主要发生在生长季后期。春小麦主要发育期和生育期与不同生育阶段的平均气温和有效积温的相关性分析表明,后期增温并没有完全显著提前成熟期,春小麦生育期缩短是播种期推迟和成熟期提前共同作用的结果。春小麦生育期间的平均气温与生育期的相关性比有效积温与生育期的相关性更高,能更好地定量刻画北方春小麦生长发育客观规律。春小麦品种改良变换、播种期调整以及其它适应性措施的实施以及措施实施程度在区域上的差异性是春小麦生育期变化区域差异的主要原因。北方春小麦生长发育的区域性差异是各自适应气候变化的结果。