Results 241 to 250 of about 163,521 (283)

Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13

Journal of Autism and Developmental Disorders, 2001
A case of an 18-year-old male who meets the DSM-IV criteria for autistic disorder and borderline intelligence is described. Cytogenetic evaluation revealed a karyotype of 46, XY, del(13)(q14q22). The relevance of this case to the etiology of autism is discussed.
M M, Steele, M, Al-Adeimi, V M, Siu, Y S, Fan   +3 more
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First cytogenetic evidence of homozygosity for the retinoblastoma deletion in chromosome 13

Cancer Genetics and Cytogenetics, 1989
Retinoblastoma (Rb) provided the first model in which both normal alleles of a recessive gene had to be lost as a prerequisite for tumorigenicity. However, region q14 of chromosome 13 appears cytogenetically normal in the majority of Rb tumors, and no homozygotic deletion had previously been observed.
N, Lemieux, J, Milot, M, Barsoum-Homsy, J, Michaud, T K, Leung, C L, Richer   +5 more
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Retinoblastoma and chromosome 13 deletion.

Helvetica paediatrica acta, 1983
Two cases of association of unilateral and bilateral retinoblastoma, respectively, with interstitial deletions of long arms of chromosome 13 are presented. The clinical pictures of both children corresponded to the moderate extent of the deletions, with both somatic and mental retardation in both children, and mild phenotypic manifestations ...
A, Gencík, P, Auf der Maur, A, Gencíkova, J, Lütschg   +3 more
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Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome

American Journal of Medical Genetics, 1995
AbstractWe describe a patient who had craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia and moderate developmental delay, and who also had a terminal deletion of chromosome 13 (q32.3qter). This MCA pattern strongly suggests the Opitz GBBB syndrome.
M, Urioste, I, Arroyo, A, Villa, I, Lorda-Sánchez, R, Barrio, M J, López-Cuesta, J, Rueda   +6 more
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A deleted chromosome no. 13 in human retinoblastoma cells: relevance to tumorigenesis

Cancer Genetics and Cytogenetics, 1981
In this report of banded karyotypes prepared after short-term culture (72 hr) from human retinoblastoma tumor tissue, on del(13)(pter leads to q14:) chromosome and one normal chromosome #13 were found in all of the metaphases examined. Similar deletions (always involving 13q14) have previously been described in the somatic cells of individuals with one
G, Balaban-Malenbaum, F, Gilbert, W W, Nichols, R, Hill, J, Shields, A T, Meadows   +5 more
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Retinoblastoma and deletion of the long arm of chromosome 13: An underestimated diagnosis?

Pediatric Blood & Cancer, 2008
AbstractWe report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype.
Bénédicte, Brichard, Christophe, Chantrain, Jean-Luc, Gala, Catherine, Sibille, Christiane, Vermylen, Patrick, De Potter   +5 more
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Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment

Clinical Genetics, 1974
A girl with retinoblastoma, mild psychomotor retardation, bifid uvula and clinodactyly of the fifth fingers is described. A chromosome analysis revealed a long arm deletion of a D chromosome. An autoradiographic analysis, as well as G‐ and Q‐banding analyses indicated a 13q‐ chromosome.
E, Orye, M J, Delbeke, B, Vandenabeele
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Interstitial Deletion of the Long Arm of Chromosome 13 and Retinoblastoma

Pediatrics International, 1984
AbstractA female infant is reported in whom bilateral retinoblastoma developed due to interstitial delection of the long arm of chromosome 13. Her chromosome karyotype examined with peripheral lymphocytes proved to be 46, XX, del (13) (q12.3 q21.2). Parental chromosome karyotypes were normal.Clinical symptoms were bilateral retinoblastoma, retardation ...
Shozo Ohdo, Tohru Sonoda, Harumichi Madokoro, Kunio Hayakawa   +3 more
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Cognitive and Behavioral Phenotype of a Young Man With a Chromosome 13 Deletion del(13)(q21.32q31.1)

Cognitive and Behavioral Neurology, 2012
Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q deletion. We report the neuropsychological profile and specific linguistic, visual, spatial, constructional, and behavioral disabilities of a young man with a de novo chromosome 13 deletion (13)(q21 ...
E. Matute, O. Inozemtseva, A. Aguilar Lemarroy, L. F. Jave Suarez, E. D. Mina, H. Rivera, ZUFFARDI, ORSETTA   +6 more
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New Findings in the Chromosome 13 Long-Arm Deletion Syndrome and Retinoblastoma

Ophthalmology, 1979
New clinical and pathologic findings in patients with deletion of the long arm of chromosome 13 (13q-) include optic nerve hypoplasia and retinal dysplasia. Fibroblasts derived from patients with a 13q- syndrome with and without retinoblastoma, as well as from familial and sporadic retinoblastoma, are a useful model for the study of genetic ...
R R, Weichselbaum, Z N, Zakov, D M, Albert, A H, Friedman, J, Nove, J B, Little   +5 more
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