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Your search keyword '"Woollatt, E."' showing total 3 results
Start Over Author "Woollatt, E." Topic chromosome inversion
3 results on '"Woollatt, E."'

1. Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

Author

Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, and Gecz J

Subjects
Blotting, Northern, Child, Expressed Sequence Tags, Genetic Linkage, Humans, In Situ Hybridization, Fluorescence, Liver metabolism, Male, Models, Genetic, Mothers, Tissue Distribution, Chromosome Inversion, Intellectual Disability genetics, Physical Chromosome Mapping, Transcription, Genetic, X Chromosome
Abstract

Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X) (p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene.

Published
1999
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2. Paracentric inversions in man.

Author

Callen DF, Woollatt E, and Sutherland GR

Subjects
Abnormalities, Multiple genetics, Abortion, Spontaneous genetics, Adult, Female, Humans, Infant, Newborn, Male, Pregnancy, Chromosome Inversion, Chromosomes, Human, 1-3, Chromosomes, Human, 6-12 and X
Abstract

Two new cases of familial paracentric inversions, 46,XY,inv(3)(p21.1p25) and 46,XY,inv(7) (q22.3q36.1) are presented. A review of published cases suggests that prenatal diagnosis for carriers of paracentric inversions is not warranted. However, care must be exercised in eliminating the possibility of insertions.

Published
1985
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3. Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

Author

Villard, M, Briault, S., Lossi, M, Paringaux, C., Belougne, J., Colleaux, C, Pincus, D., Woollatt, E., Lespinasse, J., Munnich, M, Moraine, M, Fontès, M, Gecz, J., Villard, L., Lossi, A.-M., Colleaux, Laurence, Munnich, A., Moraine, C., Fontes, M., Laboratoire de Cytogénétique, CH Chambéry, INSERM U491 (U491), Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)

Subjects
Male, Transcription, Genetic, Genetic Linkage, MESH: Child, Tissue Distribution, MESH: Models, Genetic, MESH: In Situ Hybridization, Fluorescence, Child, Genetics (clinical), X chromosome, In Situ Hybridization, Fluorescence, Chromosomal inversion, Genetics, Expressed Sequence Tags, 0303 health sciences, Expressed sequence tag, 030305 genetics & heredity, Physical Chromosome Mapping, MESH: Chromosome Inversion, MESH: Mothers, Liver, Cosmid, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, MESH: Genetic Linkage, Mothers, Biology, MESH: Physical Chromosome Mapping, MESH: Expressed Sequence Tags, MESH: Intellectual Disability, 03 medical and health sciences, Restriction map, Genetic linkage, Intellectual Disability, Humans, MESH: Blotting, Northern, MESH: Tissue Distribution, 030304 developmental biology, MESH: X Chromosome, MESH: Humans, Models, Genetic, MESH: Transcription, Genetic, Breakpoint, Original Articles, Blotting, Northern, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Chromosome Inversion, MESH: Liver
Abstract

Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X)(p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene. Keywords: inverted X chromosome; non-specific X linked mental retardation; XLMR; MRX

Published
1999
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