DIPHALLIA ASSOCIATED WITH MALFORMATION of HINDGUT DERIVATIVES

ESCOLA PAULISTA MED,DEPT PEDIAT,BR-04023 São Paulo,SP,BRAZILESCOLA PAULISTA MED,DEPT PEDIAT,BR-04023 São Paulo,SP,BRAZILESCOLA PAULISTA MED,DEPT PEDIAT,BR-04023 São Paulo,SP,BRAZILWeb of Scienc

ISODICENTRIC-X CHROMOSOME and MOSAICISM - REPORT ON 2 CASES of 45,X/46,X,IDIC(XQ)/47,X,IDIC(XQ),IDIC(XQ) and REVIEW of the LITERATURE

We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. the mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event. (C) 1993 Wiley-Liss, Inc.ESCOLA PAULISTA MED,DISCIPLINA ENDOCRINOL,BR-04023 São Paulo,BRAZILESCOLA PAULISTA MED,DISCIPLINA ENDOCRINOL,BR-04023 São Paulo,BRAZILWeb of Scienc

Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies

A study was conducted on 75 perinatal deaths with congenital anomalies through clinical, radiographic, cytogenetic, and autopsy evaluation, and the diagnoses of 72 patients (96%) were determined. in 11 patients with chromosomal anomalies, the cytogenetic study was sufficient to determine the diagnosis and the reproductive risk. in these cases, the value of the autopsy results resided above all in the description of the clinical variability. Radiographic evaluation was the best method to establish a diagnosis of skeletal dysplasias (14.7%). Furthermore, the X-rays showed small skeletal defects which are difficult to see on dissection. the clinical genetic evaluation with a detailed description of the phenotype and anthropometric exam, performed by a clinical geneticist, and the autopsy with gross and microscopic evaluation, facilitated the diagnoses of 50 cases (66.7%). We concluded that, in perinatal death with congenital anomalies, the teamwork of clinical geneticists and fetal pathologists increases the probability of determining the etiological diagnosis. This is essential to define the parents' reproductive risk, thus contributing to primary prevention of congenital anomalies.Universidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Embriol, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Anat Patol, Setor Patol Pediat, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, BR-04020041 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, Disciplina Med Fetal, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Genet, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Embriol, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Anat Patol, Setor Patol Pediat, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, BR-04020041 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, Disciplina Med Fetal, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Genet, BR-04023900 São Paulo, BrazilWeb of Scienc