Texto
CLINICS 2010;65(1):107-109
RUBINSTEIN-TAYBI SYNDROME: A FEMALE PATIENT WITH A DE NOVO RECIPROCAL TRANSLOCATION T(2; 16)(Q36.3; P13.3) AND DYSGRANULOPOIESIS
CASE DESCRIPTION
Correction: The karyotype had a clerical error. The correct karyotype is 46,XX,t(2;16)(p11.2, p13.3), thus, the patient presents one translocation between the short arms of chromosomes 2 and 16.
CLINICS 2011;66(11):1999 DOI:10.1590/S1807-59322011001100025
Documentos relacionados
Polycystic ovary syndrome (PCOS) typically manifests during the reproductive period, and no information is available on the prevalence of pelvic floor dysfunction (and
Recent clinical and experimental studies have shown that N-3 polyunsaturated fatty acids (PUFAs) are effective in preventing AF, 7,8 and PUFAs have been used to prevent AF in
The aim of this study was to investigate whether the G22A polymorphism of the adenosine deaminase gene is associated with recurrent spontaneous abortions in Brazilian women.. METHODS:
Clinical and epidemiological data on file and information on the primary and ileostomy closure opera- tions were analyzed and correlated with complications in the first 30
Our findings suggest that this screening tool could be used to classify children as having normal hearing or hearing loss and to identify the type of hearing alteration (conductive
To investigate more accurately the reported improve- ments in the distensibility of post-burn scarred skin after topical treatments with tretinoin, we examined skin tissue
In arterioles, we found that several proteins involved in focal adhesion, such as actin, talin, vimentin, and laminin, were increased in the DM6 group; however, the immuno- labels
METHODS: Controlled hemorrhagic shock (40% of the total blood volume was removed) was induced in 18 animals, which were then treated with normal saline (0.9% NaCl), Lactated
