Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

Abstract

We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations.

Manifestaciones orales del síndrome del cromosoma 18 en anillo

“…En el presente estudio el paciente presentó los siguientes hallazgos radiográfi cos: micrognatismo discreto, presencia de dientes permanentes en estadio de Nolla 9 y sus respectivos deciduos todavía presentes sin exfoliación y lesiones sugestivas de caries dental (Figuras 4 y 5). Con relación a las anomalías de oclusión, el paciente presentó mordida abierta y leve apiñamiento, un hallazgo clínico interesante y también encontrado por otros autores (6,9,10).…”

A Rare Case Of Ring Chromosome 18

“…The clinical manifestations of this disorder vary, contingent upon the amount of genetic material lost during the deletion. Studies have shown that individuals with a ring chromosome 18 defect typically exhibit features such as intellectual disability, brain malformations, microcephaly, hypertelorism, and associated skeletal abnormalities, contributing to short stature and hypotonia (3,4). Additionally, some affected children may present with immunological abnormalities.…”