How is xyy syndrome detected

Most boys with XYY syndrome can grow up healthy, have normal sexual development and fertility, and lead productive lives. Symptoms can vary greatly among boys. Depending on which symptoms a boy has and how severe they are, doctors may recommend various treatments. Boys who have XYY syndrome are born with it. It's called XYY because they have an extra Y chromosome in most or all their cells. Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes.

Half the chromosomes are inherited from the father and the other half from the mother. The chromosomes contain genes, which determine an individual's characteristics, such as eye color and height. XYY syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division. This error can happen before conception in the reproductive cells of the mother or the father, or early in the embryo's development.

When the extra chromosome is the result of incorrect cell division early in the embryo's development, a boy may have a mosaic form of XYY syndrome. This means some cells have an extra Y chromosome, but not all do. Boys with mosaic XYY syndrome usually have fewer symptoms. Noticeable signs and symptoms of XYY syndrome can vary greatly. If autism spectrum disorder is present, applied behavioral analysis ABA therapy may be recommended.

Prognosis Prognosis. The long-term outlook for people with 47, XYY is typically good. Boys with this syndrome can do well both in school and in building social relationships. Men with 47, XYY syndrome can also have successful careers and families of their own. Organizations Organizations. Organizations Supporting this Disease. Social Networking Websites. Do you know of an organization?

Learn More Learn More. Click on the link above to view this information. This website is maintained by the National Library of Medicine. The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

Click on the link above to view this information page. In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.

Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss 47, XYY syndrome.

Click on the link to view a sample search on this topic. Submit a new question 47,XYY syndrome was present in my first delivery. See answer I have a 4 year old son who was diagnosed with XYY karotype about a year ago. See answer Have a question? References References. Genetics Home Reference. Ross J and Bishop D.

Lenroot RK. XYY Syndrome. National Organization for Rare Disorders. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. October-December ; 33 4 Clinical aspects of infertile 47,XYY patients: a retrospective study. Human Fertility. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. June ; 2 Do you know of a review article?

Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families. Tips for Finding Financial Aid. Eighteen couples decided to continue the pregnancy while 3 couples requested termination. All parents who accepted childbirth were counselled against disclosure of the genetic anomalies to relatives and paediatricians for the first year of child life. In June , the 18 couples were contacted by telephone and invited to take part in a survey which included a clinical assessment of the child, an interview and a questionnaire.

Among these, 13 cases accepted and were included in our study and 2 couples could not be found. Three couples agreed only to participate in a phone-based questionnaire due to excessive distance from our Centre and were therefore excluded from the study. A physical assessment of the child was performed by a clinical geneticist and a paediatrician: it included a detailed personal history, a physical evaluation, auxological measurements, description of minor anomalies of face and developmental milestones with specific attention to language delay.

With parents' consent, pictures of the child were taken to document dysmorphisms and familial traits. The interview with parents was carried out by clinical psychologists and included 15 questions aiming at evaluating the relationship with the paediatrician; how couples dealt with the prenatal diagnosis and genetic counselling; and how they coped with specific circumstances of the prenatal and postnatal period.

Special attention was given to a retrospective judgment about prenatal communication, present and future worries, needs and expectations. The CBCL is one of the most commonly used scales of infantile behavior in Italy and in other countries and it is employed for both clinical and research purposes.

Following our protocol, both parents together answered a multiple choice questionnaire that used a three-valued scale which identified the frequency of specific behaviors. The data-base allowed us to draw a personalized profile for each child aimed at revealing difficulties in the investigated areas.

Clinical qualitative traits and interviews data were evaluated by descriptive analysis and the CBCL test data were compared to those derived from an Italian population matched for age. Data derived from this instrument allowed us to describe the following: involvement in activities sports and spare time , emotional response anxiety, hyperactivity, etc. This procedure allows emotional disturbances to be classified as either internalizing disturbances emotional hyper control as opposed to externalizing disturbances emotional control deficit.

Answers to the items are grouped in 8 categories: anxiety and depression; withdrawal; somatic complaints; social problems; cognitive problems; attention problems; transgressive behaviour with the breaking of rules; and aggressive behaviour. Furthermore behaviour can be evaluated according to six scales, based on the DMS-IV classification: affective problems, anxiety problems, somatic problems, attention problems, oppositive -provocative behaviour and conduct problems.

In June , two years after the first evaluation, the same couples received a phone call from the clinical geneticist, to review items previously discussed and to inquire about specific actions taken to overcome difficulties.

All couples consented to the phone call and the following data were collected: health problems during the previous two years, social difficulties at school and with peers, presence of language delay and action taken to increase language skills.

Our cohort includes 13 pairs of parents with children diagnosed prenatally with a 47,XYY chromosome. In fact, 14 children were seen, including one pair of male twins among whom only one has this genetic characteristic; but their parents did not have the karyotype repeated after birth so as to avoid their own prejudices in dealing with growth and development.

The age of the children was 9 months to 7 years: 7 cases were between 9 months and 3 years, 6 between 3 and 7 years. The mean maternal and paternal age at birth was 39 and 42 years, respectively. Eight couples out of 13 were in their first pregnancy. No congenital anomalies were observed. At the two year follow-up no relevant health problems were reported. Table 2 summarizes auxological data at birth and main developmental milestones while auxological data at evaluation are reported in Table 3.

No evident dysmorphism was noted at clinical evaluation. Frequent facial features were mild hypertelorism, broad nasal bridge, low-set ears and mild flat malar region.

These characteristics were confronted with that of parents and were described as specific of children Figure 1. Language skills were specifically asked about and, considering the age range 33 — months, all children but one had acquired some language.

Four out of 12 demonstrated a limited evolution of language. Parents of 5 of the affected children had inquired about specific speech and language therapy. Facial features. Orbital and malar region of 47,XYY probands showing mild hypertelorism, broad nasal bridge and mild flat malar region. A and B Couple of dizygotic males twins. One with 47,XYY prenatal diagnosis. In our sample 8 couples out of 13 did not disclose the cytogenetic diagnosis to their paediatrician, following the advice given at the time of prenatal diagnosis by the clinical geneticist.

The remaining 5 couples preferred to inform him " by choice ", " to be correct " or, in 1 case due to a clinical problem the early growth of pubic hair.

According to parents, none of the paediatricians who were informed of the 47,XYY karyotype gave any specific advice. All interviewed parents but one considered prenatal cytogenetic test very useful. Reaction to fetal karyotype communication was in most cases alarming, including states of uncertainty 1 case , worry 2 cases and trauma 8 cases , only two cases reported little concern.

An explanation of foetal karyotype with an improved understanding allowed couples to regain some stability. In 3 couples out of 13 their anxiety was almost completely mitigated; residual apprehension was present in 6 cases; a slightly increased level of unease was felt in only 2 cases. Four, children aged between 4 and 5 years, perceived some irrelevant differences. In the six families in which siblings were present, parents perceived greater differences between their affected and unaffected children especially more shyness and language delay.

The ability to participate in play activities was reported as normal in all cases. Some of the traits recorded were similar to individual differences present in the same general age-matched population.

Almost all parents did not feel the need to consult other medical specialists. In only one case a 5 year-old child speech therapy was undertaken.

However half of couples had sought more information on the Internet. The couples interviewed declared a strong, specific interest on future developments in genetic research on boys with a 47,XYY karyotype 9 cases. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. From Genetics Home Reference. Description 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells.

Frequency This condition occurs in about 1 in 1, newborn boys. Causes People normally have 46 chromosomes in each cell. Learn more about the chromosome associated with 47,XYY syndrome y chromosome. Inheritance Most cases of 47,XYY syndrome are not inherited. Research Studies from ClinicalTrials.