Cytogenetic study of 45 meningiomas from 31 female and 14 male patients are reported. No chromosomal abnormalities were found in nine (20%). These were predominantly meningotheliomatous, and were from younger patients (average age, 46 years). Monosomy 22 was noted in only 20% and in 12 patients (27%) with other losses and rearrangements. Among the latter, 50% were either recurrent or recurrent and invasive, the majority were fibromatous and occurred in older patients. Nonrandom loss was ...

Sequential cytogenetic studies of four patients with ataxia telangiectasia showed the progressive development of lymphocyte clones, each marked with a rearranged chromosome 14. Initial studies had shown random chromosomal breaks and rearrangements. Later studies in all patients showed nonrandom rearrangement of chromosome 14 with a breakpoint at 14q12 and with the distal segment translocated to either chromosome 14 or 7. The proportion of circulating lymphocytes carrying the marker ...

A newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib-polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. The material appeared by staining reactions to be a glycoprotein that was seen electron ...

Two sisters at risk for hereditary medullary carcinoma and having small but progressive increases of serum calcitonin in response to calcium infusion underwent thyroidectomy. The thyroid glands were studied for C-cell distribution. Middle and upper portions of the lateral thyroid lobes showed marked increases and clustering of calcitonin-containing cells in comparison with normal thyroid glands. Elevated calcitonin content (670 to 4100 Medical Research Council mU per gram), as compared ...

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic ...

C cell hyperplasia and occult medullary carcinoma of the thyroid in asymptomatic individuals at genetic risk can be detected by measurement of serum calcitonin concentrations before and after stimulation with a secretagogue. Electron microscopy was used to confirm the presence of C cell hyperplasia afte demonstration of elevated serum calcitonin values in three asymptomatic young women from two affected kindreds. Nodules of hyperplastic cells were observed in each of the three thyroids ...

A baby with partial trisomy 7, 46, XY,t (5;7) (q35;q31) resulting from a familial translocation (5q+,7q-) is reported. The clinical abnormalities of this case closely resemble those of previously reported cases of partial trisomy 7. It is suggested that partial trisomy 7 may represent a clinical entity.

A family study was undertaken to investigate genetic involvement in renal dysplasia, which is defined as abnormal metanephric differentiation. Probands were ascertained through the retrospective examination of necropsy records and the reevaluation of available material, which included microscopic examinations of the kidneys, gross descriptions of organs, and gross photographs. We obtained family histories and performed physical examinations and renal ultrasonography on parents and sibs ...

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that ...