Search

We report on the cytogenetic and molecular characterization of a constitutional de novo ring chromosome 22 (r(22)) in 2 unrelated patients with emphasis on different hypotheses proposed to explain the phenotypic variability characterizing this genomic disorder. In both patients, molecular investigations using FISH and array-CGH techniques revealed a 22q terminal deletion involving the 22q13.33 critical region. The size of the deletion was estimated to at least 1.35 Mb in the first proband and to only 300 kb in the second. They both exhibited the major features of r(22) syndrome, but the first patient was more profoundly affected. He had a more severe phenotype, further complicated by behavioral anomalies, autistic-like features with abnormal EEG pattern and brain MRI profile. Haploinsufficiency of the SHANK3 gene, lying in the minimal critical region, is nowadays considered as responsible for most neurobehavioral anomalies. Nevertheless, phenotypic severity and occurrence of additional features in the first patient suggest a potential involvement of one or more specific gene(s) located proximally to SHANK3 (as PLXNB2, PANX2, ALG12 or MLC1), acting either independently of it or by regulating or promoting its expression and thus disrupting its function when deleted. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We led a clinical and molecular characterization of a patient with mild mental delay and dysmorphic features initially referred for cytogenetic exploration of an azoospermia. We employed FISH and array CGH techniques for a better definition and refinement of a double chromosome aberration associating a 17p microdeletion with partial monosomy 21q due to 1:3 meiotic segregation of a maternal reciprocal translocation t(17;21)(p13.3;q21.2) revealed after banding analysis. Brain MRI depicted partial callosal and mild diffuse cerebral atrophies, but without expected signs of lissencephaly. The patient's karyotype formula was: 45,XY,der(17)t(17;21)(p13.3;q21.2)mat,-21. FISH study confirmed these rearrangements and array CGH analysis estimated the loss sizes to at least 635 kb on chromosome 17 and to 15.6 Mb on chromosome 21. The absence of lissencephaly and major brain malformations often associated with 17p terminal deletions could be attributed to the retention of PAFAH1B1, YWHAE and CRK genes. Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region. Azoospermia should result from gamete apoptosis induced by a control mechanism triggered in response to chromosome imbalances. Our study provides an additional case for better understanding and delineating both 17p and 21q deletions. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Presents an experimental study regarding the use of theoretical chemistry in explaining the Baeyer-Villiger oxidations relating to methoxy aromatic aldehydes. What students are taught about the Baeyer-Villiger reaction; Reference to the use of theoretical calculations; Variation of results obtained.

Vitamins from twelve pomegranate cultivars (6 from tunisia and 6 from china) were studied using high-performance liquid chromatography analysis. six common vitamins found in fruit juices were identified and quantified. Ascorbate contents for all cultivars ranged from 6 to 18 mg per 100 g. thiamin ranged from 0.08 to 0.24 mg per 100 g, riboflavin from traces to 0.009 mg per 100 g, niacin from 0.21 to 1.32 mg per 100 g, pyridoxin from traces to 0.14 mg per 100 g and cobalamin from traces to 0.039 µg per 100 g. Present findings may be used to guide the content of vitamins included in fruits as supplements for commonly diets. [ABSTRACT FROM AUTHOR]