7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al.
View Article and Find Full Text PDFColomb Med (Cali)
March 2015
Introduction: The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis.
Patients And Methods: It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study.
Two patients with short and hyperextended neck, cervical meningocele and other birth defects, were born the same day at the same hospital, both died. The autopsy report and X-rays show iniencephaly's classic findings. Revision of clinical histories did not show consanguinity between the parents, or exposure to environmental factors.
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