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224 results on '"Crolla, J."'

6. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Author

van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Õunap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, and de Vries, B B A

Published
2009
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23. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Author

Bijlsma, E. K., Collins, A., Papa, F. T., Tejada, M. I., Wheeler, P., Peeters, E. A., Gijsbers, A. C., van de Kamp, J. M., Kriek, M., Losekoot, M., Broekma, A. J., Crolla, J. A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M. I., Marozza, A., Mencarelli, M. A., Castagnini, C., Dosa, L., Ariani, Francesca, Mari, Francesca, Canitano, R., Hayek, G., Botella, M. P., Gener, B., Mínguez, M., Renieri, Alessandra, Ruivenkamp, C. A., and Papa, FILOMENA TIZIANA

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, Chromosomal translocation, Biology, IRAK1, X-inactivation, MECP2, MECP2 duplication, X Chromosome Inactivation, Clinical Research, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, X, Chromosome, Karyotype, General Medicine, medicine.disease, Chromosome Banding, Pedigree, nervous system diseases, Xq28, Phenotype, Xq28 duplication, Female, Mental retardation in females
Abstract

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males.

Published
2012
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25. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome

Author

Robinson, D, Dalton, P, Jacobs, P, Mosse, K, Power, M, Skuse, D, and Crolla, J

Subjects
Karyotyping, Y Chromosome, Chromosome Mapping, Humans, Turner Syndrome, Original Articles, Polymerase Chain Reaction, In Situ Hybridization, Fluorescence
Abstract

Fourteen patients with Turner syndrome and a structurally abnormal Y chromosome were analysed by PCR amplification and fluorescence in situ hybridisation for the presence of sequences specific to defined regions of the Y chromosome. Thirteen patients had a mosaic karyotype including a 45,X cell line and one case was non-mosaic in cultured lymphocytes. Ten patients had a pseudodicentric Yp chromosome, two an isodicentric Yq, one a pseudodicentric Yq, and one a derived Y chromosome. Two of the patients with a psu dic(Yp) chromosome had complex karyotypes with more than two cell lines, one of which exhibited five morphologically distinct mar(Y) chromosomes, presumably derived from a progenitor psu dic(Yp). Nine of the ten psu dic(Yp) chromosomes were positive for all Yp and Yq probes used except DYZ1 which maps to Yq12, suggesting a common breakpoint near the Yq euchromatin/heterochromatin boundary. In the three patients with a dicentric Yq chromosome two different breakpoints were observed; in two it was between PABY and the subtelomeric repeat sequence and in one it was between DYZ5 and AMGY in proximal Yp. Our results suggest that the great majority of structurally abnormal Y chromosomes found in Turner syndrome mosaics contain two copies of virtually all of the functional Y chromosome euchromatin. Keywords: Turner syndrome; Y chromosomes; marker chromosomes; fluorescence in situ hybridisation

Published
1999

26. The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

Author

Sharkey, Freddie H., Foulds, N., Thuresson, Ann-Charlotte, Collins, A. L., Annerén, Göran, Hedberg, B. O., Delaney, C. A., Iremonger, J., Murray, C. M., Maher, E., Crolla, J. A., Costigan, C., Lam, W., FitzPatrick, D., Regan, R., Ennis, S., Lynch, S. A., Sharkey, Freddie H., Foulds, N., Thuresson, Ann-Charlotte, Collins, A. L., Annerén, Göran, Hedberg, B. O., Delaney, C. A., Iremonger, J., Murray, C. M., Maher, E., Crolla, J. A., Costigan, C., Lam, W., FitzPatrick, D., Regan, R., Ennis, S., and Lynch, S. A.

Published
2010

48. Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1.

Author

Krepischi-Santos, A. C. V., Rajan, D., Temple, I. K., Shrubb, V., Crolla, J. A., Huang, S., Beal, S., Otto, P. A., Carter, N. P., Vianna-Morgante, A. M., and Rosenberg, C.

Subjects
INTELLECTUAL disabilities, TUMOR suppressor genes, PATIENTS, GENETICS, CHROMOSOMES, GENOMES
Abstract

Chromosome microdeletions or duplications are detected in 10–20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of ∼180 kb in 17p13.1. This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. Furthermore, in 2 of the patients, the deletions also included TP53, the most frequently inactivated gene in human cancers. The 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, have a known or suspected function in neuronal development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause (∼1%) of mental retardation. Further, the constitutive deletion of tumor suppressor genes in these patients, particularly TP53, probably confers a significantly increased lifetime risk for cancer and warrants careful oncological surveillance of these patients. Constitutional chromosome deletions containing tumor suppressor genes in patients with mental impairment or congenital abnormalities may represent an important mechanism linking abnormal phenotypes with increased risks of cancer. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2009
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50. A highly complex rea(2;3;11) and aniridia by position effect.

Author

Rivera, V., Ayala-Madrigal, M. L., Barros-Núñez, J. P., Arnaud-López, L., Maloney, V., and Crolla, J. A.

Subjects
HUMAN chromosome abnormalities, PSYCHOMOTOR disorders, CHROMOSOMAL rearrangement, GENETICS, INTELLECTUAL disabilities, CYTOGENETICS
Abstract

A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosmids for the Wilms, Aniridia, Genital anomalies and Retardation (WAGR) region, alphoid repeats for chromosomes 2, 3 and 11, subtelomere probes for 2p/2q, 3p/3q and 11q and BACs for 2q32 and 3q13. We identified ∼15 breakpoints with at least three interchromosomal and three intrachromosome anomalies involving chromosome 11. Both parents had normal karyotypes and no cryptic 11p rearrangements revealed by the chromosome 11 cosmid panel. The lack of a deletion of PAX6 pointed to the direct insertion of an ∼300-kb segment involving the cosmids FO2121 and AO4160, and more specifically the insertion’s proximal breakpoint in the ∼150-kb segment between FO2121 and FAT5 (PAX6), as the responsible factor for the patient’s aniridia via a position effect resulting in functional haploinsufficiency of the PAX6 gene. This case illustrates the importance of recognizing that de novo complex chromosomal rearrangements found in patients with diverse clinical features may contribute to the phenotype, but that multiple mechanisms and higher levels of complexity may be unmasked by high resolution molecular cytogenetic studies. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2006
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