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Epstein-Barr virus (EBV) -related Hodgkin lymphoma in a 1-year-old child with DiGeorge syndrome. [PDF]
Rao Z +7 more
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Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome. [PDF]
Arya P +5 more
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Chromosomal Deletion and Retinoblastoma
New England Journal of Medicine, 1976Retinoblastoma 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
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Chromosome deletion in a case of retinoblastoma
Annals of Human Genetics, 1963SUMMARYIn 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
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Interstitial deletion of chromosome 2p16.2p21
Clinical Dysmorphology, 2003We 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
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