A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.
Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.
Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlem@hacettepe.edu.tr.
Pelin Özlem
PÖ
Şimşek-Kiper
Yavuz
Y
Bayram
Gülen Eda
GE
Ütine
Yasemin
Y
Alanay
Koray
K
Boduroğlu
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome; D009133:Muscular Atrophy / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*