Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child

Gloria María Rosales-Solis; César Adrián Martínez-Longoria; Guillermo Antonio Guerrero-González; Jorge Ocampo-Garza; Jorge Ocampo-Candiani

2016, Number 6

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Gac Med Mex 2016; 152 (6)

Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child

Rosales-Solis GM, Martínez-Longoria CA, Guerrero-González GA, Ocampo-Garza J, Ocampo-Candiani J

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Language: Spanish
References: 5
Page: 836-837
PDF size: 179.96 Kb.

ABSTRACT

Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.

REFERENCES

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Arora H, Chacon AH, Choudhary S, et al. Bloom syndrome. Int J Dermatol. 2014;53:798-802. Figura 1. A: Cara larga y estrecha, frente corta, implantación profunda de los ojos y una nariz prominente. B: poiquilodermia en las mejillas. C: Múltiples máculas cafés ovales de 5-30 mm de diámetro en el tronco. A B C Figura 2. Prueba de intercambio de cromátides hermanas por inmunofluorescencia directa que mostró más de 25 intercambios por célula