Castelví LA, de León ONE, González GN, Soriano TM, Barrios MA, Maceira RL

Language: Spanish
References: 13
Page: 1-7
PDF size: 374.60 Kb.

ABSTRACT

Introduction: Isochromosomes are a chromosomal aberration resulting from an infrequent arrangement in which, due to an erroneous division, a chromosome emerges which has two copies of the same arm and absence of the other arm. In the study subjects the above process led to partial trisomy for one arm and partial monosomy for the other.
Objective: Analyze the infrequent character of this sort of finding in a two-year-old baby and the possible presence of undetected mosaicism.
Case presentation: A chromosomal study was conducted of a patient with an aortic annulus and delayed growth which explains isochromosome of the long arm of chromosome 18. The karyotype of both parents was normal.
Conclusions: Isochromosome of the long arm of chromosome 18 presents intermediate signs between trisomy 18 and a syndrome due to deletion of the short arm of chromosome 18. Cytogenetic analysis led to an accurate explanation of the origin of the chromosomal abnormality.

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