Two ova from the mother are fertilized by two sperm from the father. Patients included 26 boys with 47, xyy, 82 boys with ks, and 50 control boys ages 415 years. Investigations of the pattern of dna replication have shown that the x chromosomes in normal female cells exhibit marked asynchrony and one of them has a pronounced pattern of late replication. They were aged 25 years and followed up both clinically and by means of eeg. Mortality among males with 47, xyy is increased due to a host of conditions and diseases. Xyy syndrome nord national organization for rare disorders. Jan 14, 2018 47, xyy syndrome is caused by having an extra copy of the y chromosome in each cell of the body. We here report a case of 46,xy 47, xyy syndrome diagnosed in a patient with a female phenotype. In this study, we report the cases of five unrelated patients with klinefelters syndrome and seizures or eeg epileptiform abnomalities. 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 presence of nca was sought and.
Get a printable copy pdf file of the complete article 663k, or click on a page image below to browse page by page. Pdf men with 47,xyy syndrome present with varying physical attributes and degrees of infertility. Pdf living with klinefelter syndrome 47,xxy trisomy x 47,xxx and 47, xyy popular colection. 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.
This chromosomal anomaly occurs in one of 1,000 live male births in the general population, but more frequent in infertile populations. These may include being taller than average, acne, and an increased risk of learning problems. Few patients with xyy syndrome will have infertility. Files are available under licenses specified on their description page. Atividade analizando cariotipos humanos aberrante 1. Sex chromosome abnormalities scas turner syndrome ts 45,x, klinefelter syndrome ks 47,xxy, triple x syndrome triple x, 47,xxx and double y syndrome double y, 47, xyy are estimated to affect approximately 1 per 400 births.
Gastrointestinal stromal tumor in an xyyxy male, cancer. Is microcephaly a sofar unrecognized feature of xyy syndrome. Electroclinical findings in four patients with karyotype. 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. Access to society journal content varies across our titles. Boys with 47, xyy syndrome have one x chromosome and. If you have problems viewing pdf files, download the latest version of adobe reader. Two of the patients had epilepsy, one had only one isolated generalized tonicclonic seizure, one had febrile.
Unique suggests that parents aim to be patient, calm and firm when dealing with their sons. Unique, a web site that provides information and support to families affected by rare chromosome disorders, has published several pamphlets about 47, xyy syndrome and behavior disorders. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for 47, xyy syndrome. All structured data from the file and property namespaces is available under the creative commons cc0 license. Some males with xyy syndrome will be mosaic, where some of their cells have two y chromosomes and the other cells have the usual one y chromosome.
For language access assistance, contact the ncats public information officer. Abstract objective to assess the prevalence of ychromosome sequences and gonadoblastoma in patients with turner syndrome ts using molecular techniques. Data source a literature search was performed in pubmed, limiting the period of time to the years 20052014 and using the descriptors. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features.
Ts and y sequences n26, and ts and ychromosome material n27. The origin of the extra y chromosome in males with a 47,xyy karyotype pdf. Nodulocystic acne as a phenotypic feature of the xyy. Sindrome 47, xyy genetic and rare diseases information. Normalmente varones tienen solamente una copia del cromosoma y y tienen 46 cromosomas total.
Please use one of the following formats to cite this article in your essay, paper or report. Criminality in men with klinefelters syndrome and xyy. Karyotype analysis 400 belt, g belt showed 47,xyy fig. The xyy syndrome is an aneuploidy of the sex chromosomes in which a human male receives an extra y chromosome, producing a 47, xyy karyotype. Klinefelter syndrome, also known as xxy syndrome, is a condition in boys and men thats caused by an extra x chromosome. In the majority of cases the phenotypic features remain normal.
Sindrome 47,xyy pediatria manuali msd edizione professionisti. Changes in the cohort composition of turner syndrome and. Oral, physical, and behavioral aspects of patient with. Most people have two sex chromosomes, with girls having two x chromosomes, and boys having one x and one y chromosome. Most studies about 47, xyy have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Scribd is the worlds largest social reading and publishing site. Boys with 47, xyy syndrome have one x chromosome and two y chromosomes in. 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. Mar 01, 2002 read gastrointestinal stromal tumor in an xyy xy male, cancer genetics and cytogenetics on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Testicular size and shape of 47, xyy and 47,xxy men in a doubleblind, doublematched population survey. A patient with 46,xy47,xyy karyotype and female phenotype. Enable javascript to view the expandcollapse boxes. There is wide variability in the clinical presentation and prognosis of sexual chromosome anomalies. Article pdf available in gene 21 september 20 with 72 reads how we measure reads. A number of representative cytogenetic surveys were conducted years ago on newborns in various countries. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Pattern of dna replication of the sex chromosomes in three. Desordenes cromosomicos comunes cromosomas 15 y x y y. Many babies that are born with xyy syndrome do not have any clinical features and symptoms.
Pdf 47,xyy syndrome and male infertility researchgate. Acute lymphoblastic leukemia in a 46,xy47,xyy mosaic male. Visootsak 2009 found that males with sex chromosomal aneuploidy e. Men with 47, xyy syndrome present with varying physical attributes and degrees of infertility. Aula 8 citogenetica e cromossomopatias citogenetica. There are no fertility issues associated with xyy syndrome. 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. 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. Behavioral and social phenotypes in boys with 47,xyy. Clinical studies have suggested a poorer educational level and social adaptation among 47, xyy persons. 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 is a genetic condition in which a male has an extra y chromosome. Nodulocystic acne as a phenotypic feature of the xyy genotype. The y chromosome is one of the sex chromosomes, and the other sex chromosome is called the x chromosome. Testicular size and shape of 47,xyy and 47,xxy men in a. An xyy male with acute lymphoblastic leukemia, cancer. Unfortunately, there is limited current information on how to address behavior issues in a boy with 47, xyy syndrome. A 15yearold patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6. If you have access to a journal via a society or association membership, please browse to your society journal, select an article to view, and follow the instructions in this box.
Prevalence of ychromosome sequences and gonadoblastoma in. There are 47 chromosomes, instead of the usual 46, giving a 47,xyy karyotype. 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. The question of causality vs concomitance of nodulocystic acne nca and xyy genotype is examined. Male infertility related to an aberrant karyotype, 47,xyy. Approximately 1 in every males carries an additional y chromosome, either in pure form 47, xyy or in diverse mosaicisms variants. 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. Read an xyy male with acute lymphoblastic leukemia, cancer genetics and cytogenetics on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Cariotipo euploide eu verdadero, ploide juego a free powerpoint ppt presentation displayed as a flash slide show on id. Pdf living with klinefelter syndrome 47,xxy trisomy x. A diagnosis of xyy syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and specialized tests i. 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.
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