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Am J Med Genet. 2002 Nov 22;113(2):218-24.

Pure partial trisomy 7q: two new patients and review.

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Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Centro de Investigación sobre Anomalías Congéticas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.


We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyly, and clynodactyly. High-resolution G-bands (550-850) karyotype showed that patient 1 had an extra chromosome, which resulted from the adjacent 3:1 segregation from a maternal balanced reciprocal translocation, and patient 2 had an abnormaly Y chromosome. Fluorescent in Situ Hybridization (FISH) analysis with a whole chromosome painting confirmed in the first patient that the extra chromosome was from chromosome 7, and in patient 2 the abnormal Y chromosome had extra material of chromosome 7 origin. Three different clinical entities have been described as the product of the partial trisomy of three different 7q regions, although some authors have found no karyotype-phenotype correlations. Of the patients presented here, patient 1 had trisomy of those three regions, and patient 2 had trisomy of two of those regions.

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