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Abstract #46774 Published in IGR 13-3
A patient with a duplication of 16q and a deletion of 3p presenting with coloboma and buphthalmos
Boduroglu K; Simsek PO; Utine GEChromosome Research 2011; 19: S63
Seemingly isolated ophthalmologic anomalies may deserve detailed cytogenetic analyses. An 8-day-old male infant was admitted for buphthalmos and glaucoma. The patient was born to parents from the same village as their second live born by cesarean section at term with a birth weight of 2,600 g. Prenatal history was unremarkable. Unilateral buphthalmos was detected at birth. The patient had irregular respiration and tachypnea in the delivery room requiring neonatal intensive care for a short while. On physical examination, body weight was 2,500 g (25th centile) and head circumference was 33.5 cm (50th-75th centiles). He had no respiratory distress. Buphthalmos and edema of the left eye and coloboma of the right iris were noticed. He had a systolic cardiac murmur. Cardiac examination by color Doppler echocardiography detected a secundum atrial septal defect and patent ductus arteriosus requiring no medical intervention. Abdominal and cranial ultrasonography was normal. Regarding these findings, the patient was clinically suspected of having mosaicism for trisomy of chromosome 16. Routine karyotype analysis revealed 46, XY,der(3)t(3;16)(p25;q13)mat. The maternal karyotype was 46,XX,t(3;16)(p25;q13). Fluorescence in situ hybridization analysis revealed 46,XY,add(3)(p24).ish (wcp 16+). Duplication of chromosome 16q, which is generally confined to the placenta, and a deletion of 3p were considered responsible from the phenotype.
K. Boduroglu. Hacettepe University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey.
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
