Results 171 to 180 of about 5,548 (213)
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No Genetic Linkage Detected for Schizophrenia to Xq27–q28
British Journal of Psychiatry, 1991The hypothesis that at least a subgroup of familial cases of schizophrenia could be due to a genetic defect on the X chromosome is supported by the observation of an excess of X-chromosome aneuploidies (XXX and XXY) among populations of patients with psychosis. The distal long arm, Xq27–q28, is a candidate region where linkage has been claimed to manic-
L E, Delisi +7 more
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Translocation t(3;12)(q28;q14) in parosteal lipoma
Genes, Chromosomes and Cancer, 1995AbstractParosteal lipoma is a rare primary benign bone tumor demonstrating histopathologic features similar to those seen in the commonly occurring lipoma of soft tissue. Cytogenetic studies of soft tissue lipoma have demonstrated frequent abnormalities of 12q13–15.
J A, Bridge +3 more
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2023
The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
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The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
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MARTIN‐BELL SYNDROME fra(X) (q28) IN A SRI LANKAN FAMILY
Journal of Intellectual Disability Research, 1982The Martin-Bell syndrome was observed in a family with six mentally retarded males, born to three sisters, who were of more than average intelligence. The males showed large ears, macrotestes, they were delayed in their development and had speech retardation. Five were pleasant and co-operative, while one had severe temper tantrums. The fra(X)(q28) was
P, Soysa +3 more
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Unusual t(3;12)(q28;q13) in childhood acute lymphoblastic leukemia
Cancer Genetics and Cytogenetics, 1991In this article we report a case of a 7-year-old boy affected by acute lymphoblastic leukemia of the common type. Bone marrow examination at diagnosis showed a reciprocal translocation between the long arm of chromosome 3 and the long arm of chromosome 12.
A, Angioni +6 more
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Expression of fra(X)(q28) is Suppressed in man-mouse hybrid cells
Human Genetics, 1982The fate of fra(X) was followed after fusion of cells donated by a male fra(X) carrier with mouse A9 cells. Suppression of the fragile site was found in the hybrids as well as in human cells co-cultivated with mouse cells.
R D, Wegner, B, Geiseler, K, Sperling
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De novo interstitial tandem duplication of chromosome 4(q21-q28)
American Journal of Medical Genetics, 1996We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short ...
E G, Navarro +6 more
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Trisomy 20q caused by der (X)t(X;20)(q28;q11.2)
American Journal of Medical Genetics, 1990AbstractA first case of “pure” trisomy 20q (q11.2‐qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvement of other autosomes has complicated the interpretation of the phenotypic effect of trisomy 20q ...
J J, Waters +3 more
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Fragile X phenotype in a patient with a large de novo deletion in Xq27‐q28
American Journal of Medical Genetics, 1994AbstractA 2‐year‐old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27‐q28 including deletion of FMR‐1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973–1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother
S G, Albright +7 more
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Tentative assignment of gene for oto‐palato‐digital syndrome to distal Xq (Xq26–q28)
American Journal of Medical Genetics, 1992AbstractDetailed physical mapping of oto‐palato‐digital (OPD) syndrome gene on the X‐chromosome was attempted on a family of 3 generations with 2 affected men. Although the result remains statistically non‐significant, it indicates that the OPD‐I gene might be located on the distal Xq.
D I, Hoar +5 more
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