2025 ICD-10-CM code Q98.5
Karyotype 47, XYY is a chromosomal abnormality characterized by an extra Y chromosome.
Medical necessity for genetic testing would be established based on clinical findings suggestive of a chromosomal disorder, such as unexplained developmental delays, learning disabilities, or unusual physical characteristics.Genetic counseling is usually recommended.
Genetic counseling and testing, developmental pediatrician, psychologist, or psychiatrist if behavioral issues present.
- Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
- Q90-Q99 (Chromosomal abnormalities, not elsewhere classified)
In simple words: This is a condition where a boy is born with an extra Y chromosome. This extra chromosome can sometimes lead to being taller than average and may cause some learning challenges or behavioral issues, but this varies greatly from person to person. Most men with this condition are able to have children.
Karyotype 47, XYY, also known as XYY syndrome, is a sex chromosome aneuploidy characterized by the presence of an extra Y chromosome in males. This results in a 47,XYY karyotype instead of the typical 46,XY.Individuals with this condition typically present with taller than average stature and may exhibit some developmental delays or learning disabilities.Other features can include behavioral problems, such as increased aggression or impulsivity, although the severity of these symptoms varies greatly.Fertility is generally unaffected.Diagnosis is typically made through karyotyping, a genetic test that examines the chromosomes.
Example 1: A newborn male is found to have an extra Y chromosome during routine newborn screening. This is diagnosed as Karyotype 47, XYY., A 10-year-old boy is referred to a genetics clinic because of learning difficulties and behavioral issues. Karyotype testing reveals a 47,XYY karyotype., A young adult male presents with tall stature and a history of mild learning disability; genetic testing confirms a diagnosis of 47, XYY karyotype.
Detailed family history, including any known genetic conditions; complete physical examination documenting height and any dysmorphic features; results of karyotype analysis; developmental assessments; psychological evaluations (if indicated by behavioral concerns).
** While many individuals with 47,XYY karyotype are asymptomatic, some may require ongoing monitoring for developmental and behavioral concerns.Referral to specialists, such as developmental pediatricians, psychologists, or psychiatrists may be necessary based on individual needs.
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- Specialties:Genetics, Pediatrics, Endocrinology, Psychology
- Place of Service:Office, Hospital, Genetics Clinic