Results 291 to 300 of about 462,672 (344)

DELETION OF THE SHORT ARM OF CHROMOSOME NO. 10

Acta Paediatrica, International Journal of Paediatrics, 1977
Abstract. A new case of deletion of the short arm of chromosome no. 10 is reported. The individualization of a new autosomal syndrome associated with a 10p‐ aberration is discussed.
R, Berger, J C, Larroche, P L, Toubas
exaly   +3 more sources

Chromosomal Deletion and Retinoblastoma

New England Journal of Medicine, 1976
Retinoblastoma occurs at a very high rate among two groups of genetically predisposed persons: those who inherit the tumor potential with a dominant mode of transmission, and those who bear a delet...
A G, Knudson, A T, Meadows, W W, Nichols, R, Hill   +3 more
openaire   +2 more sources

Chromosome deletion in a case of retinoblastoma

Annals of Human Genetics, 1963
SUMMARYIn the course of an investigation of karyotypes in patients with retinoblastoma, one was found in whom all cells showed a deletion in the longer arm of one of the large acrocentric chromosomes. Five other patients had normal karyotypes.The writers wish to thank Dr White Franklin for drawing attention to case no.
K P, LELE, L S, PENROSE, H B, STALLARD
openaire   +2 more sources

Deletion of chromosome 22q11 and pseudohypoparathyroidism

American Journal of Medical Genetics, 1997
A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism ...
W J, Craigen, E A, Lindsay, J T, Bricker, E P, Hawkins, A, Baldini   +4 more
openaire   +2 more sources

Interstitial deletion of chromosome 2p16.2p21

Clinical Dysmorphology, 2003
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). This is the first report of a deletion in chromosome 2 involving those particular breakpoints.
S R, Sanders, A J, Dawson, A, Vust, M, Hryshko, M, Tomiuk, D, Riordan, C, Prasad   +6 more
openaire   +2 more sources

Chromosome 13 Deletion in Myeloma

1999
Multiple myeloma (MM) is characterized by a tremendous “genomic chaos” unique to this hematopoietic neoplasm. The lack of readily identifiable dominant cytogenetic abnormalities has presented an obstacle to molecular genetic research attempting to define lesions critical for myelomagenesis (Sawyer, et al., 1995).
J, Shaughnessy, B, Barlogie
openaire   +2 more sources

Chromosome deletion 1q42‐43

American Journal of Medical Genetics, 1986
AbstractWe report on a newborn male and a female of 3 years 9 months with de novo 1q42 or 43‐qter deletions. These cases are compared with ten other reported cases.
M S, Watson, J J, Gargus, K J, Blakemore, S N, Katz, W R, Breg   +4 more
openaire   +2 more sources