KARYOTYPE 69,XXX 47,XX,+15 IN A 2 1/2 YEAR-OLD CHILD/

We present the clinical findings in a 2 1/2 year old girl with an unus ual mosaic karyotype. Amniocentesis was performed at 35 weeks because of intrauterine growth retardation. The in situ cultures showed 47,XX, +15 in seven colonies, 69,XXX in four colonies, and in two colonies 46 ,XX was detected. Subcultures showed 69,XXX/47,XX,+15 with no normal c ells, A small dysmorphic baby was born at term. Cytogenetic studies we re performed on cord blood, amnion, and placental tissue immediately a fter birth and further studies on peripheral blood, bone marrow, muscl e biopsy, and skin cultures at 1 1/2 years of age. FISH with two autos omal centromeric probes was performed on the peripheral blood sample. A normal cell line could not be seen in any postnatal tissue by either technique. The predominant cell line postnatally was 69,XXX. There we re no cytogenetic polymorphisms and the parental origin of the differe nt cell Lines was not determined. Marked red cell macrocytosis of peri pheral blood was noted on routine blood count. Bone marrow aspiration showed megaloblastic haemopoiesis without evidence of vitamin B12 or f olate deficiency. At 2 1/2, years, the patient has significant develop mental problems.