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Atypical case of the syndrome of the long shoulder deletion of the 11TH chromosome

Abstract

Case from practice. In the child with the mental retardation and epileptic seizures cariotyping showed the deletionof the long shoulder of the 11th chromosome. Parents and close relatives are healthy. The case differs from the classical description of similar anomalies by the absence of congenital organ anomalies and so‑called small signs.

About the Authors

E. I. Kostyrko
Sakhalin Regional Hospital
Russian Federation
Yuzhno-Sakhalinsk


Zh. V. Prokoptseva
Sakhalin Regional Hospital
Russian Federation
Yuzhno-Sakhalinsk


K. Mi. Dya
Sakhalin Regional Hospital
Russian Federation
Yuzhno-Sakhalinsk


References

1. Барашнев Ю.И., Бахарев В.И., Новиков П.В. Диагностика и лечение наследственных заболеваний у детей. – М. : Триада-Х, 2004.

2. Бочков Н.П. Клиническая генетика. – М. : Медицина, 1997.

3. Ворсанова С.Г., Юров Ю.Б., Чернышов В.Н. Медицинская цитогенетика. – М. : Медпрактика-М, 2006.

4. Генетика : учебник для вузов / под ред. В.И. Иванова. – М. : Академкнига, 2006.


Review

For citations:


Kostyrko E.I., Prokoptseva Zh.V., Dya K.M. Atypical case of the syndrome of the long shoulder deletion of the 11TH chromosome. Pacific Medical Journal. 2007;(3):81. (In Russ.)

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ISSN 1609-1175 (Print)