Literature DB >> 8996970

Interstitial deletion of the short arm of chromosome 10: report of a case and review of the literature.

Z Kato1, T Kato, N Kondo, T Orii.   

Abstract

The fifth patient with an interstitial deletion of the short arm of chromosome 10 is described. She showed most of the features observed in other known patients at age 20, including psychomotor retardation, distinct facial dysmorphism, abnormally shaped skull and cardiac malformation, while she did not show any growth retardation. The elevation of serum IgG level was observed from age 15, but she did not show DiGeorge syndrome. These differences would be explained by the differences in the amount of deleted segments using high resolution chromosome banding and molecular methods.

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Year:  1996        PMID: 8996970     DOI: 10.1007/BF01913177

Source DB:  PubMed          Journal:  Jpn J Hum Genet        ISSN: 0916-8478


  2 in total

Review 1.  An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors:  P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  Traceable Quantum Steganography Scheme Based on Pixel Value Differencing.

Authors:  Jia Luo; Ri-Gui Zhou; GaoFeng Luo; YaoChong Li; GuangZhong Liu
Journal:  Sci Rep       Date:  2019-10-22       Impact factor: 4.379

  2 in total

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