Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p.
We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p12p13,3). A review of the literature did not reveal any previous combination of the same kind. Craniosynostosis and partial absence of the corpus callosum, separately or in conjunction, may be part of the spectrum of malformations in the chromosome 9p deletion syndrome, and its presence, in combination with other known features, should prompt a search for this particular deletion as part of the differential diagnosis.
Eshel
Gideon
G
Pediatric Division, Assaf Harofeh Medical Center, Zerifin, Israel. fredricag@asaf.health.gov.il
Lahat
Eli
E
Reish
Orit
O
Barr
Joseph
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D003337:Corpus Callosum / Q000473:pathology; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans