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Biomedical subjects

E Magenis

Publications and source records attributed to E Magenis.

32 records · Page 2Linked to original sources
PubMed1984

Bone marrow transplantation for severe combined immune deficiency in an infant with chimerism due to intrauterine-derived maternal lymphocytes: donor engraftment documented by chromosomal marker studies.

Chromosomal heteromorphisms defined by the quinacrine banding technique were used to identify the maternal origin of 46,XX lymphocytes present in the blood of a male infant with severe combined immune deficiency disease. These chromosomal markers were also used to document the engraftment by donor lymphocytes from the sister and the concurrent disappearance of maternal lymphocytes after a successful bone marrow transplantation. Donor lymphocytes were detected by this technique 6 days after transplantation, earlier than is usually possible with other marker systems and before definite evidence of immunoreconstitution. Maternal lymphocytes persisted in the patient's peripheral blood for a prolonged period of time, being detectable 172 days after transplantation. Analysis of T-lymphocyte- and B-lymphocyte-enriched populations after transplantation documented lymphoid chimerism with T-lymphocytes of donor origin and B-lymphocytes of both patient and donor origin, demonstrating prolonged persistence of patient B-lymphocytes and suggesting that the patient's immune defect is primarily at the T-lymphocyte level.

Bone Marrow Transplantation↗
PubMed1982

Nonfluorescent Y chromosomes. Cytologic evidence of origin.

Twelve presumptive structurally altered Y chromosomes were studied with Q-, G-, G-11, C-, Cd, and lateral asymmetric banding techniques and were compared with normal X and Y chromosomes and with an abnormal [i(Yq)] Y chromosome that exhibited intact fluorescence. Significant to this work is the fact that the Y chromosome has a small block of Giemsa-11 heterochromatin adjacent to the centromere on the long arm, while the X chromosome does not, which allows a distinction between the X- and Y-derived chromosomes. Two of the twelve altered chromosomes of either X or Y origin are small nonfluorescent rings. Each ring has a G-11-positive band of heterochromatin at the centromere, confirming Y origin. Each of the normal-length nonfluorescent presumed Ys and a Y with a fluorescent band in the center have one G-11 band at the centromere and another at an equal distance from the end of the long arm, the bands also being Cd positive, indicating that these chromosomes are pseudodicentric. The likely mechanism of origin is a break at the distal bright heterochromatin/euchromatin junction (or within the bright segment in the chromosome with the bright center band), fusion of the sister chromatids at the breakpoints, and loss of the distal segment.

Centromere↗
PubMed1981

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Each of three families of northern European origin contains a mentally retarded son with hemoglobin H (Hb H) disease. One parent is a carrier of mild alpha-thalassemia and the other is normal, suggesting that this form of Hb H disease results from the interaction between an inherited defect of alpha-chain production and one member of the pair in chromosome 16 and a new mutation on the other. Restriction-enzyme analysis indicated that the new mutation was not the same in the other three patients, and demonstrated at least two hitherto undescribed lesions involving the alpha-globin gene cluster. Unless the association between the Hb H disease and mental retardation is fortuitous, the new mutations may also be related to the development changes in these children. Since the mutations only came to light because there was concurrent inheritance of an additional alpha-thalassemia determinant, this type of mutation of chromosome 16 may have been overlooked in other mentally retarded patients.

Adult↗
PubMed1981

Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB.

A complex de novo translocation was found in leukocytes and fibroblasts from a boy with mental retardation and minor abnormalities. The 45,XY chromosome constitution found in all cells was initially interpreted from routine G- and Q-banding techniques as a balanced translocation of part of the short arm of 12 to the short arm of 15 and of the long arm of 21 to the short arm of 12. With additional staining techniques and use of prometaphase chromosome preparations, it was determined that the distal portion of band 12.3 of the short arm of chromosome 12 was missing from the 12/15 and the 12/21 translocation chromosomes. This interpretation was confirmed by a decreased concentration of the LDH-B subunit in lactate dehydrogenase isozymes of the patient's fibroblasts, consistent with his being hemizygous for the LDHB locus.

Abnormalities, Multiple↗
PubMed1980

Mosaic and hypermodal cells in amniotic fluid cell cultures.

Karyotypic results from a series of 975 consecutive amniotic fluid specimens studied for prenatal diagnosis are reported. In only 32% of specimens were all cells analyzed euploid. Two thirds (63%) of the specimens studied were hypomodal in at least one cell; 25% of the studies were hypomodal in three or more cells. In contrast, only 3.5% of the studies were hypermoidal in one or more cells. Most frequently an additional chromosome 2 was present in these hypermodal cells. Cells with other than a diploid chromosome constitution may be mistakenly identified as evidence of mosaicism. This is especially likely when the involved chromosome is one associated with a clinically defined syndrome.

Amniotic Fluid↗
PubMed1978

The Marden-Walker syndrome.

The characteristic facies, joint contractures, muscular hypotonia, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy. Extensive evaluation of the neuromuscular system failed to identify a specific abnormality. Electromyography was normal with low amplitude. Light and electron microscopy of a skeletal muscle biopsy was normal. Histochemical study of this biopsy material was also normal. The pathogenesis of the syndrome is discussed.

Contracture↗
PubMed1978

Pregnancy and the Turner syndrome.

A 21-year-old white female with short stature, cubitus valgus, multiple cutaneous nevi, and no other major features of the Turner syndrome is described. She had normal secondary sex development and menses. She recently completed a normal pregnancy with delivery of a normal male infant. Postpartum endocrine studies were normal. All cells examined from blood, skin, uterus, and both ovaries had a 45,X karyotype. She is the sixth reported monosomy X patient to achieve pregnancy. A literature review indicates increased fetal wastage (22 of 46 pregnancies) and increased chromosomal errors in the offspring (8 of 26 liveborn infants) of patients with a 45,X cell line. Three cases of trisomy 21 occurred in these infants. Amniocentesis and prenatal diagnostic studies are indicated for women with a 45,X chromosome constitution. The pathogenesis of the Turner syndrome is considered in relation to these findings.

Adult↗
PubMed1977

Partial trisomy 22: a recognizable syndrome.

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.

Abnormalities, Multiple↗