Neurodevelopmental and Behavioral Abnormalities Associated With Deletion of Chromosome 9p

Author:

Eshel Gideon1,Lahat Eli2,Reish Orit3,Barr Joseph4

Affiliation:

1. Pediatric Division

2. Pediatric Neurology Unit

3. Pediatric Genetic Institute

4. Pediatric Division Assaf Harofeh Medical Center Zerifin, Israel

Abstract

We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p 12p 13,3). 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. (J Child Neurol 2002;17:50-51).

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Reference5 articles.

1. Eleven new cases of del(9p) and features from 80 cases.

2. Bianchi DW: Chromosome 9, partial monosomy 9p, in Buyse ML (ed): Birth Defects Encyclopedia. Massachusetts , Blackwell Scientific, 1990, 353-354.

3. Practice Parameters for the Assessment and Treatment of Children, Adolescents, and Adults With Attention-Deficit/Hyperactivity Disorder

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