Pure partial trisomy 7q: two new patients and review.
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.
Rodríguez
Laura
L
Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Centro de Investigación sobre Anomalías Congéticas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.
López
Fermina
F
Paisán
Luis
L
de la Red
Maria del Mar Portugués
Mdel M
Ruiz
Angeles Maria
AM
Blanco
Manuel
M
Antelo Cortizas
Jesús
J
Martínez-Frías
María Luisa
ML
D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy