Results 231 to 240 of about 163,521 (283)

An interstitial deletion of the long arm of chromosome 13

Clinical Genetics, 1989
A case of an interstitial deletion of chromosome 13, identified as 46,XY,del(13)(q22q31), is reported in a child with psychomotor retardation, prominent low‐set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers and abnormal dermatoglyphics. This patient is compared to others in the literature with a similar deletion.
B, Roland, R B, Lowry, A S, Robertson, D M, Cox   +3 more
openaire   +2 more sources

Deletions of chromosome 13 in malignant hematologic disorders

Cancer Genetics and Cytogenetics, 1985
Thirteen patients with a hematologic disorder and an interstitial deletion of part of a chromosome #13 were evaluated to determine if any specific clinical manifestations are associated with these cytogenetic anomalies. Our results suggest that these anomalies occur in approximately 1.7% of patients with a chromosomally abnormal clone and a hematologic
D D, Johnson, G W, Dewald, R V, Pierre, L, Letendre, M N, Silverstein   +4 more
openaire   +2 more sources

WAGR syndrome with deletion of chromosome 11p11.2-13

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2004
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) are caused by deletion of chromosome 11p13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6) loci (MEM, No. 194070). We report a case of WAGR syndrome in a boy who showed deletion of chromosome 11p11.2-13.
PINNA, Antonio, Carta A, Mannazzu MC, DORE, Stefano, Balata A, Carta A.   +5 more
openaire   +2 more sources

Interstitial deletion of chromosome 13 and associated congenital anomalies

Human Genetics, 1979
An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977).
W W, Nichols, R C, Miller, E, Hoffman, D, Albert, R R, Weichselbaum, J, Nove, J B, Little   +6 more
openaire   +2 more sources

Chromosome 7q deletions: Observations on 13 malignant tumors

Cancer Genetics and Cytogenetics, 1993
Deletions of the long arm of chromosome 7, with breakpoints varying from q11 to q34, are described in 13 malignant tumors, including three carcinomas of the prostate, three colorectal carcinomas, and four testicular germ cell tumors. In two of the tumors, the chromosome also had a deletion of 7p. Review of the literature shows that 7q- chromosomes have
N B, Atkin, M C, Baker
openaire   +2 more sources

Interstitial deletion of chromosome 13 involving the region 13q14

Human Genetics, 1987
A patient with an interstitial deletion 13q14 is described who has decreased erythrocyte esterase D activity and who has not developed a retinoblastoma.
R, Pankau, W, Johannson, W, Grote, K, Dörner, M, Tolksdorf   +4 more
openaire   +2 more sources

Silver‐like syndrome and a small deletion on chromosome 13

Acta Paediatrica, 1993
A female child is described with features of Silver's syndrome, including pre‐ and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22–32).
J, Wahlström, G, Holmgren, K, Albertsson-Wikland, C J, Törnhage   +3 more
openaire   +2 more sources

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

American Journal of Medical Genetics, 1998
Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 --> q22).
B J, Weigel, M E, Pierpont, T L, Young, S B, Mutchler, J P, Neglia   +4 more
openaire   +2 more sources

Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells

Genes, Chromosomes and Cancer, 1991
AbstractThree patients with leukemia and one with a myeloproliferative disorder carried an interstitial deletion of chromosome 13, del(13)(q12q14), in leukemic cells. Proximal and distal breakpoints of the deleted segment were characterized by using DMA restriction fragment length polymorphisms of chromosome 13 supplemented by quantitative densitometry
C M, Morris, J M, Cochrane, S M, Benjes, P E, Crossen, P H, Fitzgerald   +4 more
openaire   +2 more sources

Chromosome 13 Deletion/Hypodiploidy and Prognosis in Multiple Myeloma Patients

Leukemia & Lymphoma, 2004
The application of high-dose treatment with autologous stem cell transplant(s) has improved survival, when compared to standard treatment, in patients with multiple myeloma. However, this benefit is mostly enjoyed by specific patient subgroups characterized by the absence of high-risk disease features.
Athanasios B-T, Fassas, Guido, Tricot
openaire   +2 more sources