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Biomedical subjects

B Biederman

Publications and source records attributed to B Biederman.

12 recordsLinked to original sources
PubMed1985

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

An 18-year-old intellectually normal male with characteristic features of the Langer-Giedion syndrome is reported. High resolution chromosome analysis showed a small deletion in the region of bands 8q24.11 and 8q24.12 in addition to an apparently balanced de novo translocation (2;9)(q21;q13). This finding provides additional information on the minimum deleted segment required to produce the Langer-Giedion syndrome and may indicate that deletions of this size or smaller are not necessarily associated with mental retardation.

Abnormalities, Multiple↗
PubMed1983

Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22).

We describe a kindred in which an ins(10;8)(q21;q212q22) chromosome rearrangement has been segregating for at least four generations. The risk for balanced carriers to have offspring with duplication of 8q212 leads to 8q22 is about 0.31. Individuals with unbalanced chromosomes are mildly to moderately mentally retarded and have a similar unusual appearance. Other manifestations include highly arched or cleft palate (8/9), micrognathia (6/9), sloped shoulders (4-6/9), convulsions (4/9), camptodactyly (3/9), pectus excavatum (2/9), elbow contractures (1/9), and postaxial polydactyly (1/9). The appearance and habitus resemble the mosaic trisomy 8 syndrome, although other anomalies of mosaic trisomy 8, such as vertebral, patellar, and renal defects, were not demonstrated.

Abnormalities, Multiple↗
PubMed1981

Myeloproliferative disorder with unusual marrow chromosome constitution.

This report describes a patient referred at 14 years in 1971, after one year's surveillance by the family physician, for a persistently elevated erythrocyte sedimentation rate, leukopenia, and relative lymphocytosis. Despite the documented myeloproliferative syndrome of seven years, significant physiologic impairment precluding strenuous ranching and rodeo work appeared only in the last six to nine months. Throughout the clinical course characterized by pancytopenia, refractory and somewhat megaloblastic anemia partially responsive to oxymetholone, and subacute myeloblastic leukemia, he showed a persistent double trisomy--48, XY, +8, +21 in bone marrow. This report reiterates the value of chromosome analysis in the study of hematologic disorders and, in addition, emphasizes the need to individualize each patient's prognosis.

Adolescent↗
PubMed1978

Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

A girl observed from birth to age 16 months had multiple congenital anomalies including growth and developemental retardation, microcephaly (-4SD), bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, and spasticity. Chromosome analysis showed her to be a balanced carrier of a t(8;9)(q12;q33)pat translocation. In addition, she had a de novo deletion of a distal segment of the long arm of chromosome 7. Seven previously reported cases with deletions involving 7q were reviewed and had a number of nonspecific features in common, with microcephaly of a comparable degree in one of these. Studies of the Kidd (Jk) blood groups and Hageman factor were done because of the tentative assignment of their respective loci to distal 7q. Location of the Kidd (Jk) locus on the deleted segment can be excluded on the basis of heterozygosity of the proposita for the a and b alleles. Hageman factor was not decreased, which suggests that this locus is also not on the deleted segment.

Abnormalities, Multiple↗
PubMed1978

The X-linked syndrome of macroorchidism and mental retardation: further observations.

We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X-linked, or possibly autosomal dominant male-limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood-group typing were uninformative for the purpose of linkage analysis.

Abnormalities, Multiple↗
PubMed1977

Partial trisomy 12p due to t(12;21)pat translocation.

Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.

Chromosome Aberrations↗
PubMed1977

Interchromosomal duplication for the short arm of chromosome no. 9: report of three cases due to a familial translocation t(9; 11) and one case with a de novo 47, XX, +9p karyotype.

Four cases of the 9p duplication syndrome are described. Three affected sibs resulted from a maternal t(9;11) translocation and have a duplication of the segment 9p13 leads to 9pter. They have the typical facies, hands and other features of the syndrome but are relatively mildly retarded. The fourth case has a de novo duplication of the short arm of chromosome 9. Her features are also typical although she is more retarded, particularly in expressive speech, than the other three individuals and had club feet. These observations further confirm the distinctive clinical features of this type of duplication, and support previous suggestions that the severity is roughly correlated with the length of the duplicated segment.

Adolescent↗
PubMed1977

Partial trisomy 17.

Explore the source record for details and available documents.

Chromosomes, Human, 16-18↗
PubMed1976

Partial trisomy 4q due to familial 2/4 translocation.

The case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of abnormal development in this and in 12 previously reported cases is similar, but the phenotype is not as characteristic as that associated with some other types of chromosomal imbalance. The most consistent features are: growth and mental retardation, small head with narrow forehead, short philtrum, relatively large ears with incomplete differentiation of the pinnae, cryptorchidism, oedema of the hands and/or feet, and renal anomalies. Abnormal development of the thumb was present in 4 of 13 cases. Eleven of the 13 families had balanced translocation carriers whose future offspring would be at increased risk for a mental retardation syndrome.

Child, Preschool↗
PubMed1976

Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect.

A girl with mental retardation, a convulsive disorder and clinical findings resembling cerebral palsy had an apparently balanced 12/18 translocation. Three additional cases reported in the literature had an abnormal phenotype associated with the positioning of segments from other autosomes adjacent to the band 12q21. Penotype abnormalities were not present in 14 individuals in which the translocation involved breaks at other sites on chromosome no. 12. These findings suggest the possibility of a position effect on chromosome segments translocated adjacent to the region 12q21.

Chromosome Aberrations↗