Biomedical subjects
Publications and source records attributed to J Chemke.
A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. She presented a variant chromosome 1 with partial pericentric inversion and increased centromeric heterochromatin in one chromosome 17. The cytogenetic findings are discussed. The clinical findings are compared to those found in other reported cases of partial trisomy 17 and a delineation of a pure trisomy 17p attempted.
Two cases of severely malformed infants with abnormal fetal images on B-scan sonography and markedly elevated amniotic fluid AFP are presented. There was no evidence of neural tube anomalies. The importance of an amniocentesis and AFP in pregnancies with an abnormal fetal image on B-scan sonography is emphasized, taking into consideration that most pregnancies with elevated fluid AFP have serious fetal anomalies.
Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.
Multiple congenital eye and hand anomalies occurred in a young female born to normal but consanguineous parents. Both eyes were microphthalmic with severe corneal, iris lens pathology. Ultrasonography revealed multiple echos from the vitreous. The ocular findings are suggestive of retinal dysplasia. A skeletal dysplasia, presenting as distal phalangeal hypoplasia, was found in both hands. There was no history of intrauterine exposure to drugs. This appears to be a unique association of congenital malformations, without other systemic involvement. Diagnostic and genetic implications are discussed.
Meckel syndrome was diagnosed prenatally by alpha-feto protein and beta-trace protein determinations in amniotic fluid. No central nervous system anomalies were detected in the affected fetus, who presented with large polycystic kidneys and polydactyly. An excessive synthesis of these fetal proteins by the dysplastic kidneys is suggested, allowing for the possibility of prenatal diagnosis of polycystic kidneys in families at risk for this disease. The present family emphasized the importance of amniocentesis in pregnancies at risk for Meckel syndrome, regardless of the presence of a defect in neural tube closure.
The gonads of an elderly patient with a typical testicular feminisation syndrome are described. The unusual histological features consisted of total absence of testicular tubular structures or remnants thereof and distinct proliferation of smooth muscle bundles. In addition, there was fibrous proliferation, areas of ovarian stroma, and rare Reinke crystalloids within Leydig cells. The complete tubular absence may have been the result of fibrous replacement related to patient's advanced age, while the muscular proliferation may have been of hamartomatous nature. Thus, it seems that in elderly patients with testicular feminisation syndrome, the histological appearance of the gonads may vary considerably from that in younger individuals, and in such cases the correct diagnosis should be based mainly on clinical and cytogenetic findings.
A family is reported in which the same mother conceived two children with trisomy 21. The pregnancy with the second affected child was interrupted after diagnostic amniocentesis. Maternal chromosome analysis was normal. This family and those previously reported suggest that there is an increased recurrence risk of trisomy 21 after the birth of an affected individual, possibly caused by a genetic tendency for non-disjunction. After the birth of a child with Down's syndrome, amniocentesis and chromosome analysis of cultured amniotic fluid cells is indicated in each further pregnancy, irrespective of maternal age.
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A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the Rubinstein-Taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event.
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Experience with thalidomide and German measles contracted during pregnancy has focused attention on the question of birth defects. It is suggested that good reasons exist for the carrying out epidemiological investigations to establish the true incidence and geographical and social distribution of such deformities, and hence their possibly "environmental" origin at least in some instances. Such investigations would supplement research into experimental teratology. The advantages, disadvantages and limitations of retrospective and prospective investigations are discussed. A detailed account is given of a prospective survey in progress in Israel. Reference is also made to a similar survey being launched in some Italian cities with the aid of the CNR.
A family is reported in which three of seven siblings were affected with an association of severe cerebral, cerebellar and ocular malformations. Brain malformations consisted of lissencephaly and the Dandy-Walker anomaly; congenital cataracts, retinal dysgenesis and coloboma of the choroid were found in the eyes. The pathogenesis of these developmental anomalies is probably related to abnormal neuron migration and abnormal closure of fetal fissures, occurring at an early stage of embryonic development. The association of these malformations is unique, and may point to a new malformation syndrome, inherited as an autosomal recessive trait.
Chromosomal mosaicism, with supernumerary C or C group elements, was observed in the cultured amniotic fluid cells of four fetuses undergoing prenatal diagnosis. There were discrepancies in the karyotypes of cells from different culture flasts of a single fluid sample, between cultures from successive uterine aspirations, and between cultures of amniotic fluid and fetal tissues obtained by pregnancy interruption. Most alarming was the finding, in one case, of identical mosaicism in different culture flasks as well as in repeated amniocenteses derived from a phenytypically normal fetus. In each instance, the aborted fetus or newborn infant proved to be phenotypically and cytogenetically normal. This suggests that mosaicism, demonstrated in cultured amniotic fluid cells, may not reflect the chromosomal constitution of the fetus and may pose a dilemma regarding an accurate diagnosis.