Untreated fetal hydrocephalus results in gross cranial and facial abnormalities and profound brain damage. In an attempt to prevent both, a ventriculoamniotic shunt was implanted in a fetus with probable X-linked aqueductal stenosis and hydrocephalus. Performed at 24 weeks' gestation, the procedure used techniques similar to those used for intrauterine transfusion. After shunt placement, the fetal head size grew normally until after the 32d week, when the shunt failed. A cesarean delivery was performed at 34 weeks' gestation. The infant received a standard ventriculoperitoneal shunt after delivery, and his neonatal course has been evaluated through the first three months of life. In selected cases, the ventriculoamniotic shunt may be an acceptable treatment for fetal hydrocephalus.

Adult↗

PubMed1982

The fragile X chromosome: current methods.

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Cells, Cultured↗

PubMed1982

Observations on the natural history of 49,XXXXY individuals.

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Adolescent↗

PubMed1982

Sacrococcygeal teratoma: prenatal diagnosis with elevated alphafetoprotein and acetylcholinesterase in amniotic fluid.

A sacrococcygeal teratoma was suspected by ultrasound examination at 24 weeks gestation. The amniotic fluid alphafetoprotein was markedly elevated, as was maternal serum AFP. Gel electrophoresis of amniotic fluid showed an acetylcholinesterase band. Labour began at 25 weeks gestation and the chromosomally normal male fetus was found to have a sacrococcygeal teratoma equal to three-quarters of the weight of the fetus.

Acetylcholinesterase↗

PubMed1982

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones.

Amniocyte clones from a mild-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.

Adult↗

PubMed1982

Genetics of familial neuroblastoma: long-range studies.

This is a longitudinal study of a family prone to neuroblastoma. The family was originally reported in 1975 when three children in a single generation were found to be affected. We now report the case of a fourth affected child, the sole child born in the succeeding generation. Cytogenetic studies have disclosed the segregation in the family of a paracentric inversion of the long (q) arm of chromosome No. 11 and a deletion of the short (p) arm of chromosome No. 21. However, the independent assortment of the inv(11q) and 21p- chromosomes with neuroblastoma permits us to exclude them as linkage markers for the neuroblastoma gene.

Chromosome Banding↗

PubMed1982

Translocations involving chromosomes #3 and #12: hematologic diseases associated with abnormalities of these chromosomes.

Two hematologic cases with translocations involving chromosomes #3 and #12 are described. The first case is that of a myeloproliferative disorder (preleukemia?) associated with a (3;12)(q29;q24) translocation in the bone marrow cells. No evidence of leukemic transformation has appeared to date. The second case is that of acute leukemia (AL) (M4 type) in which leukemic cells with t(3;12)(p14;q24) were seen. The roles of chromosomes #3 and #12 in hematopoiesis are considered, and the abnormalities affecting these chromosomes in various hematologic disorders have been tabulated and correlated. Abnormalities in chromosomes #3 and #12 appear to be common and nonrandom in hematologic diseases of a premalignant and a malignant type.

Acute Disease↗