1,720,967 research outputs found
Apparent CHARGE association and chromosomal anomaly: chance or contiguous gene syndrome.
No full textThis report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patients 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases
Traslocazione X-Y. Descrizione di un nuovo caso.
No full textLa traslocazione X-Y è un' anomalia cromosomica
osservata raramente nella specie umana; finora sono
stati descritti in letteratura solo 41 casi . Nella maggior
parte di essi (31 /41) la traslocazione interessa il braccio corto del cromosoma X (Xpter->Xp22) e il braccio lungo del cromosoma Y (Yq11-> Yqter). Il quadro clinico differisce notevolmente a seconda del sesso fenotipico: l'espressività clinica è modesta nella femmina, grave nel maschio potendo comportare infertilità ,
ritardo mentale, malformazioni. Scopo del lavoro è presentare un caso di una femmina di 14 anni con traslocazione X-Y (XtY) giunta alla nostra osservazione in assenza di anomalie e discutere,
alla luce della letteratura, il quadro fenotipico della sindrome
Fetal gender ratio in recurrent miscarriages
No full textBackground: The purpose of this study was to evaluate the gender ratio and incidence of chromosomal anomalies in the products of conception (POC) from recurrent miscarriages. Methods: We determined the karyotypes of POC from patients with recurrent spontaneous miscarriages between 1999 and 2009.Results: In total, 313 specimens were successfully karyotyped, with a median gestational age of 10 weeks at miscarriage (interquartile range 8-13); 199 (64%) were females and 114 (36%) were males. In total, 121 (39%) had abnormal karyotypes, the most prevalent of which were chromosome 21 and 16 trisomies, triploidy, and monosomy X.Conclusion: Our fndings suggest that female POC might be more susceptible to recurrent miscarriages than male ones during embryogenesis, implantation, and initial fetal development. © 2011 Schindler, publisher and licensee Dove Medical Press Ltd
Cariotipo 49, XXXXY ed epilessia fotosensibile: Un'associazione patologica misconosciuta. Descrizione di un caso
No full textWe report the case of a 12 y.o. male patient with 49XXXXY syndrome, previously unknown as an epileptic, but presented irritability and aggressive behaviour and was suspected of obstructive sleep apneas. Polygraphic recording ruled out apneas and showed bilateral independent interictal epileptiform abnormalities. During intermittent photic stimulation a generalized tonic-clonic seizure was elicited. MRI showed multiple hypointense white matter areas. CBZ improved cognitive performances and EEG
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
No full textAgenesis of corpus callosum with Probst bundles due to haploinsufficiency for a gene in a 8 cM region at 6q25
No full textHaploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles
No full textjournal of MEDICAL GENETIC
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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