Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
ICD-10 Q92.1 is a billable code used to indicate a diagnosis of whole chromosome trisomy, mosaicism (mitotic nondisjunction).
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) refers to a chromosomal abnormality where an individual has an extra copy of a whole chromosome in some of their cells due to errors during cell division (mitosis). This condition can lead to a variety of developmental and physical challenges, depending on which chromosome is affected and the extent of the mosaicism. For instance, if the extra chromosome is a number 21, it may lead to features similar to Down syndrome, but the severity can vary widely due to the mosaic nature of the condition. Clinical manifestations may include growth delays, intellectual disabilities, and various congenital malformations. Diagnosis typically involves karyotyping to identify the presence of the extra chromosome in a subset of cells. The clinical management of patients with this condition often requires a multidisciplinary approach, including genetic counseling, developmental assessments, and supportive therapies tailored to the individual's needs.
Pediatric documentation should include growth parameters, developmental milestones, and any associated congenital anomalies.
Common scenarios include routine developmental assessments, referrals for early intervention services, and management of associated health issues.
Consideration of the child's age and developmental stage is crucial for accurate coding and management.
Genetic documentation must include karyotype results, family history, and any genetic counseling notes.
Scenarios include genetic counseling sessions, prenatal testing discussions, and postnatal evaluations.
Accurate coding requires a clear understanding of the genetic implications and potential for recurrence in future pregnancies.
Used to confirm the diagnosis of mosaic trisomy.
Documentation must include the reason for testing and results.
Geneticists should ensure that the results are clearly linked to the diagnosis.
Mosaicism in trisomy indicates that not all cells have the extra chromosome, which can lead to a milder phenotype and variable clinical outcomes compared to non-mosaic trisomy. Accurate coding requires documentation of this mosaic nature.
