Abstract
A range of phenotypic features has been reported in infants and children with trisomy 9 mosaicism. This chromosome abnormality typically involves growth and mental retardation, dysmorphic facial features, skeletal anomalies, cardiac and brain defects, and other malformations. We describe a female infant with trisomy 9 mosaicism who was born at 41 weeks gestation to a gravida 6, para 4, Ab 2, 44 year old white female who had an unremarkable prenatal course. The delivery was by C-section because there was failure of progression of labor. The infant had intrauterine growth retardation, single umbilical artery, iris coloboma, primary pulmonary hypertension, cardiac malposition, asymmetric labia and small clitoris, clinical choanal stenosis, and dysmorphic features of micrognathia, posteriorly rotated lowset ears, and single palmar crease. Because of these findings, she was initially thought to have CHARGE association. However, her blood karyotype was 47, XX, +9[10]/46, XX[10] and she was given the diagnosis of trisomy 9 mosaicism. A policy of comfort care was invoked upon conferring with her parents, and the infant died at age 7 days. At autopsy the clinical findings were confirmed. Also diagnosed post mortem were right ventricular hypertrophy, atrial septal defect, muscularization of pulmonary peripheral arterioles, and absent corpus callosum. The features seen in this infant are consistent with the phenotype described in other published cases of trisomy 9 mosaicism. This case is interesting and important to report because it provides evidence of the need for chromosome mosaicism studies in patients who appear to have CHARGE association.
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Walker, M., Slough, R., Bove, K. et al. An infant with trisomy 9 mosaicism and features of CHARGE association. Genet Med 2, 89 (2000). https://doi.org/10.1097/00125817-200001000-00139
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DOI: https://doi.org/10.1097/00125817-200001000-00139