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47,XXX: what is the prognosis?
M G Linden1, B G Bender, R J Harmon
1National Jewish Center for Immunology and Respiratory Medicine, Denver, CO 80206.
Pediatrics
|October 1, 1988
Summary
Girls with the 47,XXX karyotype often experience developmental delays, particularly in speech and language. While generally healthy, they may face academic and behavioral challenges throughout school years.
Area of Science:
- Genetics
- Developmental Pediatrics
- Reproductive Medicine
Background:
- Prospective study observing children with sex chromosome anomalies.
- Focus on 11 unselected girls with 47,XXX karyotype, aged 15-22 years.
Observation:
- Infants with 47,XXX karyotype are typically indistinguishable from normal infants in the first year.
- Neuromotor development may show slight delays.
- Speech and language delays become apparent by age 2, often requiring intervention.
Findings:
- School-aged children exhibit speech/language deficits, poor coordination, academic struggles, and immature behavior.
- Adolescent girls are often tall with somatic complaints; sexual development is typically normal.
- Significant variability exists, with psychiatric disorders diagnosed in 7 of 11 subjects during adolescence.
Implications:
- The 47,XXX karyotype occurs in approximately 1/1000 newborns.
- Genetic amniocentesis can diagnose this karyotype prenatally.
- Counseling expectant parents on the significance and prognosis of the 47,XXX karyotype is crucial.