Valencia-Hernández A, Gómez-Valencia L, Gómez-Sandoval N, Rivera-Angles MMDR

Language: Spanish
References: 12
Page: 140-143
PDF size: 161.55 Kb.

ABSTRACT

Introduction: the trisomy of the short arm of chromosome 9 (9p) is a structural chromosomal alteration, and is characterized by the duplication of all or some segment of the short arm of chromosome 9. Clinical case: the clinical manifestations found were psychomotor retardation, dolichocephaly, broad forehead, high nasal bridge with curved and bulbous nasal lobe, short philtrum, palpebral fissures with the outer canthus tilted downward, low-set ears with prominence of the antihelix, micrognathia, short neck. and teletelia. The karyotype showed a chromosome complement 47,XY,+del(9)(q11). Conclusions: the clinical characteristics of the patient and the result of the peripheral blood lymphocyte culture karyotype made the diagnosis. The importance of genetic counseling to relatives is emphasized to avoid the recurrence of new cases.

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