Ring chromosome 13 in a newborn with rare polymalformative spectrum: a case report
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Abstract
Abstract Introduction: Chromosomal abnormalities represent one of the main etiologies of birth defects. This condition is manifested by several phenotypes, some with high morbidity and mortality Objective: To describe a rare case of a newborn with 13 ring chromosome. Case Description: A newborn born to a primiparous mother with family history of fetal malformations. In prenatal routine, lobar holoprosencephaly, hypertelorism, wide interventricular communication, ambiguous genitalia, 4 left toes, among other changes were found. The NIPT test was negative for chromosome 13, 18, 21, X and Y aneuploidies. The cytogenetic study in peripheral blood by CTG banding showed the presence of ring chromosome 13, [46,XY,r(13)] for the proband Discussion: Syndromes involving chromosome 13 have three varied clinical phenotypes, the most severe of which have severe neurological disorders such as lobar holoprosencephaly as well as gastrointestinal malformations, ambiguous genitalia and absence of fingers. It is essential that genetic counseling emerges as an important link for communication between family members and the medical professional, seeking both the clarification and comfort of the family, as well as the possibility of providing the necessary care for the newborn
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