INTRODUCTION: Jacobsen syndrome is a contiguous gene deletion syndrome caused by partial deletion of the long arm of chromosome 11. The characteristic features includes pre and postnatal growth retardation, psychomotor retardation, trigonocephaly, strabismus, epicanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammer toes, and isoimmune thrombocytopenia.
METHODS: The present case was referred at the age of 18 months because of delayed psychomotor development, postnatal growth retardation and multiple congenital anomalies. Clinical examination showed trigonocephaly, strabismus, epicanthus, upslanting palpebral fissures, broad nasal bridge, short nose with anteverted nostrils, long philtrum, carp-shaped upper lip, retrognathia, low-set dysmorphic
ears, bilateral camptodactyly, hammer toes. His karyotype was 46,XY, del(11)(q23.3-->qter). Array CGH on peripheral blood lymphocyte DNA. Terminal deletion ranged from 120.725.596 to 135.006.516 bp in size (14.280.921 bp) and covered chromosome regions 11q23.3-qter.
DISCUSSION AND CONCLUSION: As Jacobsen Syndrome presents with distinc clinical features, caryotype analysis and array CGH is valuable in suspected and uncertain cases.