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A case of interstitial deletion in the short arm of chromosome 4 on a boy of thirteen years old with deficit in weight and learning disability

https://doi.org/10.1234/XXXX-XXXX-2016-6-44-48

Abstract

We report on a rare case of interstitial deletion in the short arm of chromosome 4 including the segment p15.1-p15.32 and not including the critical region of Wolf-Hirschhorn syndrome. Size and location of this deletion were specified by metaphase CGH. Special aspects of phenotypic appearance of this syndrome are discussed.

About the Authors

V. G. Antonenko
ФГБНУ «Медико-генетический научный центр»
Russian Federation


N. V. Markova
Московский областной консультативно-диагностический центр для детей
Russian Federation


J. G. Markova
ФГБНУ «Медико-генетический научный центр»
Russian Federation


E. V. Musatova
ФГБНУ «Медико-генетический научный центр»
Russian Federation


Yu. O. Kozlova
ФГБНУ «Медико-генетический научный центр»
Russian Federation


N. V. Shilova
ФГБНУ «Медико-генетический научный центр»
Russian Federation


References

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4. White D.M., Pillers D.A., Reiss J.A. et al. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation // Am. J. Med. Genet. - 1995. - Vol. 57. - Р. 588-597.

5. Ishikava T., Sumi S., Fujimoto S. et al. Syndrome of the short arm of chromosome 4 in a boy with mild psychomotor reyardation and dysmorphism // Clin. Genet. - 1990. - Vol. 38. - Р. 59-61.

6. Schinzel A. Catalogue of unbalanced chromosome aberrations in man. - Walter de Gruyter. - Berlin - New York, 2001. - 966 p.

7. Tonk V.S., Jalal S.M., Gonzalez J. et al. Familial interstitial deletion of chromosome 4 (p15.1p16.1) // Ann. Genet. - 2003. - Vol. 46. - Р. 453-458.


Review

For citations:


Antonenko V.G., Markova N.V., Markova J.G., Musatova E.V., Kozlova Yu.O., Shilova N.V. A case of interstitial deletion in the short arm of chromosome 4 on a boy of thirteen years old with deficit in weight and learning disability. Medical Genetics. 2016;15(6):44-48. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-6-44-48

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ISSN 2073-7998 (Print)