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↗

PubMed1982

Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.

Arizona↗

PubMed1982