PP72. A NONMOSAIC TRISOMY 18 CASE WITH LONG TERM SURVIVE
CINAR A1, Kuskucu M2, Yilmaz S1, Deviren A1, Yüksel A1, Hacıhanefioğlu S1 1. Istanbul University Cerrahpasa School of Medicine Department of Medical Biology 2. Istanbul University Cerrahpasa School of Medicine Department of Microbiology and Clinical Microbiology, Genomed LTD e-mail: draysegul_cinar@yahoo.co.uk
*Corresponding Author:
page: 80

Abstract

Index case is 2 years 5 mounts old girl, was referred our outpatient clinic for dismorphic findings and neuromotor retardation at 5 months of age. Physical examinations at 5 months of age showed, growth deficiency, significant hypotonia, flat facies and occiput, laterally placed inner canthi, retromicrognathia, short neck, ulnar deviation of hands, overlapping of index over third and 5th over 4th finger, limited hip abduction, dorsiflexion on hallux. Cranial MRI showed hypoplasia of cerebellar vermis and corpus callosum. Echo performed two times. At 1 mount of age echo showed minimal PDA and PFO, at 5 mounts of age echo was normal. Chromosome analysis was performed and karyotype was, 47,XX,+18. During follow up studies the patient showed hypotonia, growth deficiency, neuromotor retardation and recurrent pulmonary infections. To confirm karyotype analysis and mild clinic of trisomy 18, QF PCR studies were performed on peripheral blood and buccal swab samples. Both studies showed nonmosaic trisomy 18. Trisomy 18 is the second most commonly diagnosed autosomal trisomy in live born infants, and characterized with growth deficiency, severe mental retardation, congenital heart diseases and dismorphic features. Median survival times varying from 2,5 days to 70 days for nonmosaic trisomy 18. The absence of heart malformations may be associated with a longer lifespan.




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