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Organo Oficial de la Secretaria de Salud de Quintana Roo

2019, Number 41

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Salud Quintana Roo 2019; 12 (41)

First case of Cri Du Chat syndrome in the state of Quintana Roo

Pedroza-Guardado ME, Gaviño-Vergara A

Language: Spanish
References: 22
Page: 26-29
PDF size: 648.12 Kb.


ABSTRACT

Introduction. Cri Du Chat syndrome is a rare genetic abnormality caused by the loss of genetic material in the short arm of chromosome 5. It has an incidence of 1 per 50,000 live births. Its main clinical manifestations are microcephaly, acute crying, mental retardation, hypotonia, round face, among others. This is the first case reported in the state of Quintana Roo.
Clinical case. Female patient of five years of age, regular prenatal control, birth weight of 2.9 kg, height 48 cm, APGAR of 9/10 diagnosed by medical geneticist at three years of age by cytogenetic study of karyotype in peripheral blood.
Conclusion. The importance of knowing the main characteristics of this infrequent syndrome leads us to the timely diagnosis of patients, they must receive a comprehensive rehabilitation to achieve maximum development of their capabilities. This improves patient independence and integration into society.


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