Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Hyper-echogenic colon: a prenatal sign of cystinuria?

We suggest the term ‘hyper-echogenic colon’ to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children. Copyright © 2006 John Wiley & Sons, Ltd.     

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular–cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright © 2002 John Wiley & Sons, Ltd.     

中国热带近百年气候波动与自然灾害

20世纪，中国热带气温呈波动上升趋势。在气温波动过程中有2个冷期和2个暖期。最暖的时期为80年代后，这与全球变化相一致，但是昆明最暖的时期为40年代。气候型大多为暖湿同期，这与全国其它区域的状况不同。自然灾害有加剧的趋势：台风次数增多，多台风年洪水多发，旱灾和冷害次数增多，广州曾降微雪，海口和崖县曾见霜，昆明曾有4年强降雪。     

A TREE-RING RECONSTRUCTION OF DROUGHT IN SOUTHERN CALIFORNIA1

ABSTRACT: Indices of annual diameter growth of trees were used to reconstruct drought in southern California back to A.D. 1700. A regional Palmer Drought Index served as predictand and tree-ring indices from eight sites as predictors in multiple linear regression analyses that yielded the prediction (reconstruction) equations. The regression explained 69 percent of the variance in Palmer Index in the period of calibration. The long-term reconstruction indicated that drought was rare in the first half of the current century relative to other discrete 50-year periods, and that based on evidence to date the last half of the 20th century may well turn out to be the most drought prone since A.D. 1700 in southern California.