Visootsak 2009 found that males with sex chromosomal aneuploidy e. Xyy syndrome is a genetic condition in which a male has an extra y chromosome. Sandberg y sus colegas en roswell park memorial institute en buffalo, nueva york, en. Testicular size and shape of 47,xyy and 47,xxy men in a. In the last decade there has been a significant increase in the proportion of xyy males. To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47, xyy syndrome xyy or 47,xxy klinefelter syndrome ks and controls and investigate the effect of prenatal diagnosis on the phenotype. 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. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Men who have 47, xyy syndrome themselves are also not thought to be at an increased risk to have a child with chromosome differences. Mental retardation is not usually a feature of 47, xyy.
Objective to investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,xxy klinefelters syndrome ks or 47, xyy compared to the general population. What mental or social features are to be expected with 47, xyy syndrome. No clear relationship of external genitalia, bone and joint abnormalities, dental irregularities, skin dis. Other symptoms can include problems with spoken language and processing spoken words, coordination problems, weaker muscles. The impact of the extra y chromosome is extremely variable. A diagnosis of xyy syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and specialized tests i. 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. A sindrome xyy tambem e designada como trissomia xyy, aneuploidia 47, xyy ou sindrome do supermacho. Normalmente varones tienen solamente una copia del cromosoma y y tienen 46 cromosomas total. Get a printable copy pdf file of the complete article 663k, or click on a page image below to browse page by page. It leads to the production of 47, xyy karyotype that is said to occur in every one out of thousands male born. Miic, meiosis ii nondisjunction of the y after achiasmate mi. Left, a representative qbanded metaphase from the 47, xyy population shows two copies of the y arrows.
A sindrome xyy tambem e designada como trissomia xyy, aneuploidia 47,xyy ou sindrome do supermacho. Cariotipo euploide eu verdadero, ploide juego a free powerpoint ppt presentation displayed as a flash slide show on id. Left, a representative qbanded metaphase from the 47,xyy population shows two copies of the y arrows. A sindrome do duplo y e uma aneuploidia dos cromossomas sexuais, onde um humano do sexo masculino recebe um cromossomo y extra em cada celula, ficando assim com um cariotipo 47,xyy.
The origin of the extra y chromosome in 47, xyy males. Boys with xyy syndrome also known as 47, xyy might be taller than other boys. Infantile autism and 47,xyy karyotype autismo infantil e. The presence of a 47, xyy karyotype in boys with pervasive developmental disorders pdd has rarely been described 7. Xyy syndrome is a genetic condition found in males only. Scribd is the worlds largest social reading and publishing site. Behavioral and social phenotypes in boys with 47,xyy. Men with 47, xyy syndrome present with varying physical attributes and degrees of infertility.
We ascertained all 47,xxy and 47, xyy males detected prenatally and postnatally during the 4 years 19901993 in the three cytogenetic laboratories in the north thames west region. The origin of the extra y chromosome in males with a 47,xyy karyotype pdf. Despite the fact that 1 in boys 16 have the karyotype 47, xyy xyy, there is a paucity of information about the phenotype, and approximately 85% or more of males with xyy are never diagnosed. Xyy syndrome nord national organization for rare disorders. Xyy syndrome causes, symptoms, life expectancy, prognosis. A diagnosis of xyy syndrome may be made before birth prenatally through amniocentesis or chorionic villus sampling. Xyy syndrome xyy syndrome approximately one boy in has xyy chromosomes. Some sperm cells of a man with 47, xyy syndrome will have an extra y chromosome. The person is generally otherwise normal, including normal fertility the condition is generally not inherited from a persons parents but rather occurs as a result of a random event during. Testicular size and shape of 47, xyy and 47,xxy men in a doubleblind, doublematched population survey.
The 47, xyy syndrome, 50 years of certainties and doubts. Electroclinical findings in four patients with karyotype. Recent studies indicate that 2040% of males with xyy meet diagnostic criteria for autism spectrum disorder asd. Pdf living with klinefelter syndrome 47,xxy trisomy x 47,xxx and 47, xyy popular colection. The xyy syndrome is a condition in which a human male has got an extra male y chromosome that adds to 47 chromosomes instead of 46 wikipedia, 2015. Mental retardation is not usually a feature of 47, xyy syndrome. This study estimates what proportion of those not detected prenatally will be diagnosed postnatally and what the indications for karyotyping are likely to be. These may include being taller than average, acne, and an increased risk of learning problems. A sindrome jacobs e designada tambem como a trissomia xyy,ou sindrome xyy aneuploidia 47,xyy ou sindrome do supermacho.
Most studies about 47, xyy have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Eles constituem um dentre 700 a 800 recemnascidos do sexo masculino, tratandose, portanto. Patients included 26 boys with 47, xyy, 82 boys with ks, and 50 control boys ages 415 years. Design registerbased cohort study comparing the incidence of convictions among men with ks and with 47, xyy with age and calendarmatched samples of the general population. Origin of the extra y chromosome in males with a 47,xyy. Abstract 47, xyy karyotype is a y chromosome aneuploidy characterized by an extra copy of the y chromosome in each of the male cells, with an incidence of 1 males.
Abc, alleles of a polymorphism at the distal tip of the xpyp par, distal to the site of the single xy recombination during mi. The parents did nothing to cause it, nor could they have done anything to prevent it. Pdf the 47, xyy syndrome, 50 years of certainties and. Acute lymphoblastic leukemia in a 46,xy47,xyy mosaic male. However, there are several single case studies in the literature of autism spectrum disorders in connection with the xyy syndrome 2,7. Sindrome 47, xyy genetic and rare diseases information. Xyy males tend to have tall stature, early speech, motor delays, social and behavioral challenges, and a high rate of language impairment. Pdf living with klinefelter syndrome 47,xxy trisomy x. Criminality in men with klinefelters syndrome and xyy. Sex chromosome problems discovered through prenatal. Clonal origin of leukemia in the xybearing stemcell line sir. Baixe no formato ppt, pdf, txt ou leia online no scribd. There are 47 chromosomes, instead of the usual 46, giving a 47,xyy karyotype. In the cells of their body, instead of 46 chromosomes including one x and one y chromosome, they have one x and two y chromosomes, making 47 in all.
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