Ibarra-Ibarra BR, Olmos-Morfín DK

Language: Spanish
References: 20
Page: 72-80
PDF size: 375.72 Kb.

ABSTRACT

Introduction: complex chromosomal rearrangements (CCR) are alterations involving more than two breakpoints that modify the chromosomal structure, which can be associated with variants in the number of copies; the latter can be duplications, deletions, inversions, and translocations, located in different genomic. Clinical case: female patient who, from the early stages of her life, was identified with neurodevelopmental delay and congenital malformations, for which she was evaluated in different hospitals. At the age of five years, motor and language disorder, intellectual disability, microcephaly, dysmorphic facies, atrial septal defect and cortico-subcortical atrophy are identified. Genetics requested karyotype and chromosomal microarray, detecting a CCR made up of two subtelomeric microduplications located at 7p22.3 and 17q25.3 coupled with a subtelomeric microdeletion located at 18p11.32-18p11.31 Conclusions: patients with CCR can present various congenital abnormalities, including neurodevelopmental delay. A comprehensive approach, with the participation of different specialists, such as primary care physicians and geneticists, can help establish the diagnosis and provide personalized care.

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