Diagnosis: XXX Syndrome

ISCN: 47,XXX

Discussion:
As many of the findings in this syndrome are subtle, many patients are not diagnosed until later in life. In this case, the subtle findings of relative microcephaly and the patient's poor performance in school, triggered the pediatrician into looking for a chromosome abnormality. Some of the most common findings in patients with 47,XXX include relative microcephaly, tall stature, poor coordination, and problems with verbal learning and expressive language. These patients have normal pubertal development and usually have normal fertility.
47,XXX is seen in approximately 1/1,000 newborn females. It usually results from maternal nondisjunction; a maternal age effect has been demonstrated.

As 47,XXX syndrome results from nondisjunction, karyotyping of parents and/or other family members was not recommended. Genetic counseling was recommended to help educate this patient and her family about 47,XXX syndrome.

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