Results 251 to 260 of about 163,521 (283)

Familial Retinoblastoma and Chromosome 13 Deletion Transmitted via an Insertional Translocation

Science, 1981
Surviving persons from a kindred in which retinoblastoma occurred over four generations, transmitted by eight unaffected individuals, underwent chromosomal analysis. The results revealed that the development of retinoblastoma was associated with a constitutional chromosome deletion del(13)(q13.1q14.5) and that the unaffected transmitting state was ...
L C, Strong, V M, Riccardi, R E, Ferrell, R S, Sparkes   +3 more
openaire   +2 more sources

[Interstitial deletion of the long arms of chromosome 13].

Anales espanoles de pediatria, 1982
We present a case of a child with important phenotypic abnormalities (retinoblastoma, hypoplasia of the thumbs and genital), as well as craneofacial and evident psychomotor retardation. The chromosomal study showed a interstitial delection of the long arms of a chromosome from D group.
M, Molina, J M, Santolaya, M L, Onaindía, E, Sánchez, J, De Gárate   +4 more
openaire   +1 more source

Retinoblastoma and Chromosome Abnormality

Archives of Ophthalmology, 1974
A 7-year-old girl with retarded physical and mental development was found, on chromosome determination, to have deletion of a segment of the long arm of chromosome 13 (13 q—). A precise chromosome identification was made on peripheral leukocytes by using a quinacrine banding technique.
R O, Howard, W R, Breg, D M, Albert, R L, Lesser   +3 more
openaire   +2 more sources

Interstitial deletion of long arm of chromosome 13.

Annales de genetique, 1984
The case is presented of a patient with the karyotype 46,XX,del(13q)(pter----q22::q32----qter) confirmed by densitometry and a phenotype of mental and growth deficiency, hypotonia, hypertelorism, ptosis, broad nasal bridge, protruding upper incisors, short neck, dislocation of the hip, hypoplasia of the thumbs, fusion of fourth and fifth metacarpal ...
A, Carnevale, S, Frias, R, Alcantar
openaire   +1 more source

Chromosomal Abnormalities: Trisomy 18, Trisomy 13, Deletions, and Microdeletions

The Journal of Perinatal & Neonatal Nursing, 1999
The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation.
openaire   +2 more sources

Detection of chromosome 13 deletions by fluorescent in situ hybridization.

Methods in molecular medicine, 2005
Multiple myeloma (MM), like other hematological malignancies, has both normal and clonal neoplastic cells coresiding in the bone marrow. To perform interphase fluorescent in situ hybridization (FISH) analysis accurately, for the detection of clonal chromosome abnormalities, it is crucial to restrict the analysis to the tumoral cells.
Scott, VanWier, Rafael, Fonseca
openaire   +1 more source

A (13) terminal deletion, 46 chromosomes

Cytogenetic and Genome Research, 1975
M. Aronson, E. Zackai, W. Mellman, R.C. Miller, A.E. Greene, L.L. Coriell   +5 more
openaire   +1 more source

Partial deletions and trisomies of chromosome 13. Mapping in relation to the chromosome 13 banding

Clinical Genetics, 1975
B. Noel, J. Thome, Jacqueline de Peretti, Bernadette Quack, Marie O. Rethore   +4 more
openaire   +1 more source

Phosphatase and Tensin Homolog Deleted on Chromosome Ten Knockdown Attenuates Cognitive Deficits by Inhibiting Neuroinflammation in a Mouse Model of Perioperative Neurocognitive Disorder

Neuroscience, 2021
Hong-Guang Bao, Yan Xing, Yan-Na Si
exaly  

RETINOBLASTOMA AND DELETIONS OF CHROMOSOME 13

The Lancet, 1987
openaire   +1 more source