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ISSN 1561-3119 (Electronic)

2016, Number 4

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Rev Cubana Pediatr 2016; 88 (4)

Severe neurological disorders and malformations seen in a girl with chromosome 21 monosomy

Méndez-Rosado LA, Noche GG, Zaldívar VT, Maceiras RL, Bravo ÁY

Language: Spanish
References: 21
Page: 511-518
PDF size: 117.83 Kb.


ABSTRACT

Introduction: chromosome 21 monosomy is generally life-threatening, although cases are reported in which it appears in mosaic structure and represents an unusual finding in genetic studies carried out in pediatrics.
Case presentation: a seven years-old girl was referred to the genetic counseling service because she presented with severe congenital malformations and dimorphic traits associated to retardation in her neurodevelopment. When she was born, she was diagnosed with interatrial communication requiring surgery. This patient was studied with conventional cytogenetic techniques and the result was an unusual chromosome 21 monosomy. The molecular cytogenetic study detected insertion of the critical area of chromosome 21 into the subtelomeric region of chromosome 6p.
Conclusions: adequate clinical examination of the patient together with the molecular testing methods allows setting a diagnostic hypothesis of this unusual case.


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