Biomedical subjects

M Krawczun

Publications and source records attributed to M Krawczun.

3 recordsLinked to original sources

PubMed1984

Ring chromosome 14 and immunoglobulin locus.

A 2.5-yr-old girl was evaluated for seizurelike episodes and psychomotor and growth retardation. Cytogenetic study showed a ring 14 chromosome in most cells, with some cells having monosomy 14. Rarely, a cell showed a double ring chromosome 14. Both parents had normal chromosomes. Because serum immunoglobulins have been mapped to the distal portion of 14q, we attempted to correlate Ig levels with the deletion involved in the formation of this ring. No decrease in IgG, IgM, IgA, IgE, and IgD serum levels was observed. The normal serum Ig levels found in the proposita are compatible with the suggestion that the Ig loci are not located on the terminal portion of 14q but more proximally in band 14q32. However, because Gm and Am allotyping was not available mapping was not conclusive.

Child, Preschool↗

PubMedDate not supplied

Fragile X screening program in New York State.

Most fragile X [fra(X)] males in New York State have not been identified. Hence, a large number of female relatives are unaware of their risks for having an affected child. A program was established in New York State in 1987 to screen for the fra(X) syndrome in mentally retarded males with living relatives. The goal of the program is to identify affected males and inform their families about the diagnosis. In this way relatives would be able to assess their risks for having a fra(X) male. In order to identify the males a screening form was developed to assess 10 features which included physical characteristics, behavior, and family history. Males who exhibited at least 5 of these manifestations were selected for cytogenetic analysis. Any male who had macroorchidism or a family history of mental retardation was also included. A total of 995 males have been screened of which 352 (35%) were selected for cytogenetic analyses. Seventeen (10.5%) of the 161 completed studies were positive for fra(X). A large number of possible female carriers were identified in the families of the propositi. This program identifies fra(X) males in a population of the mentally retarded for whom there had been no previous diagnosis. By using a two-step procedure, it is possible to screen a large population of the mentally retarded for fra(X) without testing each male cytogenetically.

Abnormalities, Multiple↗

PubMedDate not supplied

New York State screening program for fragile X syndrome: a progress report.

New York State has established a program to screen post-pubertal mentally retarded males for the fragile X [fra(X)] syndrome. The goal of the program is to identify affected males and inform their families of the diagnosis. Females in these families who are at risk for inheriting the mutation will then be able to determine their carrier status and consider that information in making reproductive decisions. Males were evaluated for 10 features of the syndrome by physicians and nurses throughout the state; cytogenetic analysis was carried out on a subset of this population. A total of 1332 males has been screened and chromosome studies have been completed for 489. Forty-three (9%) were positive for fra(X), and an additional 11 other chromosome abnormalities were identified. The 43 patients belonged to 38 families. Of the 24 families who were informed of the diagnosis, 12 consulted genetic counseling centers for follow-up studies and 12 did not.

Adult↗