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Biomedical subjects

U Müller

Publications and source records attributed to U Müller.

At least 685 records · Page 38Linked to original sources

Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome.

We report on a 10-year-old patient with the fragile X [fra(X)] syndrome and a 47,XXY karyotype. He had Martin-Bell syndrome, including typical craniofacial findings and mental retardation. The fra(X) was detected on both X chromosomes of the patient in 8% of the metaphases examined. DNA analysis using X-chromosome sequences from the pericentromeric region and from distal Xq suggests that the patient is homozygous at the fra(X) locus due to maternal nondisjunction during meiosis II.

DNA↗