Méndez RLA, Medina RY, Quintana HD, Gonzalez GN, Barrios MA

Language: Spanish
References: 9
Page: 48-51
PDF size: 584.55 Kb.

ABSTRACT

The 4q chromosome deletion syndrome presents a wide range of clinical manifestations in phenotype, showing an estimated impact equal to 1:100 000 and 28 % mortality. The severity of malformations varies widely and depends of the deletion site size and position in the chromosome. The objective of this work is to describe the cytogenetic finding of an 11 years old boy with severe clinical manifestations. The sample was received from the clinical genetics consulting service of the Juán Manuel Márquez Hospital in Havana. The karyotype in peripheral blood was carried out.

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