Abstract

ACOSTA SABATES, Marta M.; HERNANDEZ GARCIA, Iván; GARCIA MARTINEZ, Débora A.  and  LAVAUT SANCHEZ, Kalia. Duplication 2 q 2.1- q 3.1: a case report. Rev Cubana Pediatr [online]. 2008, vol.80, n.1, pp. 0-0. ISSN 1561-3119.

The clinical characteristics and the chromosomal study of a patient with partial trisomy 2q 2.1-q 3.1 are presented. The infant presented antimongoloid palpebral clefts, fine lips, bilateral microtia, deep eyes and microrretrognatia, among other dismorphies. The malformative picture included cataracts, microphthalmia, aorta coarctation and asymmetry of the brain lateral ventricles. It was undertaken a cytogenetic study, whose resulting chromosomal formula was 46, XY, dup (2) (q 2.1-q 3.1). The patient died at the age of 5 months due to a complicated pneumonia.

Keywords : Structural chromosomal aberration; duplication 2q 2.1- q 3.1; partial trisomy 2q 2.1 - q 3.1.

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