Results 201 to 210 of about 287,317 (259)

Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome. [PDF]

open access: yesCase Rep Pediatr
Arya P   +5 more
europepmc   +1 more source

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   +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

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   +6 more
openaire   +2 more sources

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