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A case of terminal long arm deletion of chromosome 6

Eloiza Helena Tajara^I; Marileila Varella-Garcia^I; Antonio Carlos Tonelli Gusson^II

^IDepartamento de Biologia, Instituto de Biociências, Letras e Ciências Exatas, UNESP, Caixa Postal 136, 15055 São José do Rio Preto, SP, Brasil. Send correspondence to E.H.T.
^IIDepartamento Materno Infantil, Faculdade Regional de Medicina, 15055 São José do Rio Preto, SP, Brasil

ABSTRACT

A four-year-old girl with deletion of chromosomal band 6q24 -> qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.

Keywords: Deletion; Chromosome 6.

REFERENCES

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