Biomedical subjects
Publications and source records attributed to D Brunoni.
The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.
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Between 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty-one of the children had a chromosome abnormality different from trisomy 21. Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births. We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists.
Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.
We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.
A male newborn presented the main craniofacial features of the 1q terminal syndrome: prominent metopic sutures, flat nose bridge, wide short nose with anteverted nares, epicantus, telecanthus, long philtrum, thin upper lip with a well defined cupid bow, downturned corners of the mouth, retrognathia. The child also had an aqueductal obstructive hydrocephalus.
This is a report of a girl with Duchenne muscular dystrophy (DMD) associated with an 46,X,t (X;15) (p21; q 26) chromosome constitution. Although in the eight published cases of girls with DMD and a t(X;aut) different autosomes were involved in the translocation, the breakpoint was always at Xp21. The present case supports the hypothesis that the DMD gene must be located at Xp21. In this study, involvement of the father's chromosomes in the translocation was detected.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
The objective of the present study was to determine the presence of risk factors for the occurrence of neural tube defects. Data for 33,535 births which occurred at Hospital do Servidor Público Estadual de São Paulo from July 1973 to December 1986 were collected in a prospective manner as recommended by "Estudo Colaborativo Latino-Americano de Malformações Congênitas" (ECLAMC, Collaborative Latin American Study on Congenital Malformations). Twenty-six cases of neural tube defects were detected (0.77/1000 births). Of these, 11 were cases of spina bifida (0.39/1000 births), 9 of anencephaly (0.27/1000 births) and 6 of encephalocele (0.18/1000 births). We observed a higher frequency of polyhydramnios, premature labor, Apgar scores of less than 7 at the first and fifth minutes, low birth weight and intrauterine growth retardation.