PubMed Health⌕ Search

Biomedical subjects

B Biederman

Publications and source records attributed to B Biederman.

9 recordsLinked to original sources
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↗