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E Wulfsberg

Publications and source records attributed to E Wulfsberg.

8 recordsLinked to original sources
PubMed1997

Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families.

It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 Mexican multiplex NSCL/P families for four markers on chromosome 19q: D19S178, APOC2/AC1, APOC2/007, and BCL3. While likelihood-based linkage analysis failed to show significant evidence of linkage, the transmission disequilibrium test indicated highly significant deviation from independent assortment of allele 3 at the BCL3 marker in both data sets (USA:P = 0.001; Mexican: P = 0.018; both combined: P < 0.001) and for allele 13 of the D19S178 marker in the Mexican data set (P = 0.004). These results support an association, possibly due to linkage disequilibrium, between chromosome 19 markers and a putative NSCL/P locus.

B-Cell Lymphoma 3 Protein↗
PubMed1993

Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

Fluorescence in situ hybridization (FISH) with chromosome-specific DNA libraries was performed on samples from eight patients with de novo chromosomal duplications. In five cases, the clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material. In the remaining three cases, careful examination of the GTG-banding pattern indicated multiple possible origins; hybridization with more than one chromosome-specific library was performed on two of these cases. In all cases, FISH conclusively identified the chromosomal origin of the duplicated material. In addition, the hybridization pattern was useful in quantitatively delineating the duplication in two cases.

Aneuploidy↗
PubMed1982

Trisomy 18 mosaicism: clues to the diagnosis.

Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non-mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 18, and only normal 46,XY cells were observed, while peripheral blood lymphocytes still demonstrated 47,XY, + 18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arches.

Adult↗
PubMed1978

Supratentorial leptomeningeal hemangioblastoma.

A familial case of von Hippel-Lindau syndrome with a supratentorial leptomeningeal hemangioblastoma is reported. This is the first case in which the meningeal origin of a supratentorial hemangioblastoma has been histologically verified in von Hippel-Lindau syndrome.

Brain Neoplasms↗
PubMed1977

Some important radiological aspects of the kidney in Hippel-Lindau syndrome: the value of prospective study in an affected family.

Eighty-three per cent of the affected members of a family with Hippel-Lindau syndrome had hypernephromas and cortical cysts of the kidney. Two of the asymptomatic members proved to have multiple hypernephromas by a prospective study. The carcinomas are frequently multifocal or bilateral. The cortical cysts are usually multiple, bilateral and small, and often contain carcinoma in the wall. The association of multifocal or bilateral hypernephromas with renal cortical cysts represents an important aspect of the Hippel-Lindau syndrome. The value of prospective renal studies in affected families is stressed.

Adult↗
PubMedDate not supplied

No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.

Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico with a nonsyndromic form of cleft lip with or without cleft palate were selected for a linkage analysis. A tetranucleotide repeat marker (D2S443) located on the same yeast artificial chromosome as the transforming growth factor alpha locus was tested for linkage to a putative susceptibility Mendelian locus under varying levels of pentrance. No evidence for linkage between D2S443 and a susceptibility locus for cleft lip with or without cleft palate was found. Insight is given to explain this outcome in spite of the statistically significant associations found by other investigators.

Chromosome Mapping↗