First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Abstract

Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.

Características fenotípicas de paciente con cromosoma 7 en anillo

“…presentó 02 casos en asociación con holoprosencefalia (HPE), una falla del cerebro anterior para separarse completamente en dos hemisferios durante desarrollo 14 . A la fecha encontramos registros de 23 pacientes reportados en el mundo, quienes comparten características tales como: curvas de crecimiento pondoestatural menor al P3,microcefalia, retraso mental, asimetría facial, hipertelorismo, fisuras palpebrales, orejas pequeñas, anomalías esqueléticas, retraso de lenguaje y nevos pigmentados y manchas café con leche 3,15-19, .…”