Introduction:

we present the case of a girl with chromosome 10q deletion, whose mother is a heterozygous carrier of a paracentric inversion of the long arm on the same chromosome.

Case presentation:

a 15-month-old patient was evaluated in the clinical genetics department for presenting delayed psychomotor development, blindness, and agenesis of the corpus callosum. Due to the clinical data, the cytogenetic study was requested, resulting in the 46,XX,del(10q26)mat[30] karyotype. Subsequently, the parents were studied; it was found that the mother had a paracentric inversion of the long arm of chromosome 10, the karyotype was 46,XX,inv(10)(q21q23)[30]. Father’s karyotype was normal.

Conclusions:

paracentric inversion in the long arm of chromosome 10 in the mother constitutes a balanced rearrangement, causing a deletion in the same chromosome in her daughter.

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