Results 251 to 260 of about 453,665 (301)

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
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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
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Chromosome 5q subtelomeric deletion syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2007
AbstractThe pure 3.5 Mb subtelomeric deletion syndrome is very rare but causes a recognizable phenotype characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature with delayed bone age due to growth hormone deficiency, and multiple minor anomalies ...
Anita, Rauch, Helmuth-Günther, Dörr
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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
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Chromosomal Deletions in AML

2009
Several, acquired, non-random chromosomal deletions have been characterized in acute myelogenous leukemia (AML). While the deletion limits vary among patients, there are consistent regions of overlap among the deleted segments between patients. Furthermore, chromosomal deletions are achieved frequently by unbalanced translocations between two and more ...
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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
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Interstitial deletion of chromosome 21

Clinical Genetics, 1982
A case report of an infant with the karyotype 46, XX, int del (21) (q21q22) is presented, in whom the 21 deletion syndrome or “antimongolism” is well defined clinically.
N, Modi, K E, Buckton
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"DELETED Y CHROMOSOME"

Annals of Internal Medicine, 1968
Excerpt To the Editor:The field of genetics has a terminology and a language that are complex and difficult.
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Chromosomal Deletions in Streptococcus mutans

1997
The oral bacterium Streptococcus mutans possesses the ability to ferment a wide range of carbohydrates, which results in the production of acids that can cause demineralisation of tooth enamel and subsequent dental caries. However, it has been shown that approximately 11% of independent isolates of S.
C R, Lewis, R R, Russell
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Chromosome 5p Deletion Syndrome

2019
This chapter reviews the incidence, etiology, and chromosomal etiology of cri du chat syndrome or chromosome 5p minus syndrome. Most of the time this deletion is de novo but about 10-15% of cases are inherited from a carrier parent. Chromosomal analysis or FISH for 5p are indicated in both parents.
Robin D. Clark, Cynthia J. Curry
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