Microsoft word 9 alteraciones cromosomicas by campus. Xx, xy, xxy, and xyy, all of which can be gonadally. Download as ppt, pdf, txt or read online from scribd. I 47, cariotipo di xyy, che descrive il numero e laspetto dei cromosomi in una cella, sono associati con i danni neurodevelopmental, compreso i. A sindrome xyy tambem e designada como trissomia xyy, aneuploidia 47, xyy ou sindrome do supermacho. Bastos, mariana saikoski faller, ana paula bastos souza, luiza emy dorfman, giselle benvenutti trombetta, g.
Both y chromosomal domains were visible in most interphase nuclei of xyy amniocytes. Normalmente varones tienen solamente una copia del cromosoma y y tienen 46 cromosomas total. Turners syndrome with mosaicism 45,x46,xx47,xxx associated with klippel feil syndrome. Infantile autism and 47,xyy karyotype autismo infantil e. Given to the low frequency of this syndrome in clinical practice, and the interest in the analysis of the diagnostic and therapeutic approach of this in the context of infertile couples, we present this clinical report. There have been several reports of individuals with the 47,xyy chromosome constitution developing acute lymphoblastic leukemia all, acute myeloid leukemia, chronic myelogenous leukemia, or other malignancies. The 47, xyy karyotype is a rare sex chromosome abnormality with a prevalence of about 1 in newborn males.
Easily share your publications and get them in front of issuus. Men with 47, xyy syndrome present with varying physical attributes and degrees of infertility. Clinical case turners syndrome with mosaicism 45,x46,xx47,xxx. Acute lymphoblastic leukemia in a 46,xy47,xyy mosaic male. Pdf klinefelter syndrome ks is the most common sex chromosome aneuploidy in men and. Sex chromosomes seem to be of major importance in the genesis of some cases of autism 2. Chromosomal analysis of the peripheral blood lymphocytes reported 47, xyy. Pdf feminized behavior and brain gene expression in a novel. The most commonly reported cytogenetic abnormalities are deletions involving chromosomes 7q, 22q, 2q37, 18q, and xp, as well as sex chromosome aneuplodies 47, xyy and 45,x 46, xy mosaicism 1. Sindrome 47, xyy genetic and rare diseases information. Up to 50% of 47, xyy boys are affected by learning disabilities, compared to 10% for the full population, according to a national survey of us children conducted in 2004 for the cdc.
Informed consent was obtained with the patients parents. Nodulocystic acne as a phenotypic feature of the xyy. Trova sulla mappa le persone con sindrome 47,xyy, entra in contatto con. X sndrome klinefelter 47, xxy 47, xxx triple x 47, xyy sr. Cariotipo euploide eu verdadero, ploide juego a free powerpoint ppt presentation displayed as a flash slide show on id.
Visootsak 2009 found that males with sex chromosomal aneuploidy e. The results of our previous pilot study on the frequency of the xyy genotype in prisoners four in 100 and outpatients two in 100 with nca are discussed in relation to the 44% seven in 16 frequency of nca in three series of xyy subjects in whom the. Later chromosome analysis was done, resulting a 47, xyy karyotype. Sex chromosomes seem to be of major importance in the genesis of some cases of autism2. Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Discussion patients with sex chromosome aneuploidy 47, xyy have higher risk of congenital malformations, although ophthalmological anomalies are unusual.