Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.

Abstract

We report on a 3-year-old boy with partial trisomy 8 p11.23-->pter and partial monosomy 4q34-->qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features. Although agenesis of the corpus callosum is not a rare finding among chromosomal abnormalities, partial trisomy 8p together with partial monosomy 4q, resulting from a maternal translocation, was not previously reported, to the best of our knowledge.

• Authors: Uğur Işik, Seher Başaran, Tahir Dehgan, Memnune Apak
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 39 Issue 1 Pg. 55-7 (Jul 2008) ISSN: 0887-8994 [Print] United States
• PMID: 18555175 (Publication Type: Case Reports, Journal Article)

Topics

• Agenesis of Corpus Callosum
• Child, Preschool
• Chromosomes, Human, Pair 4
• Chromosomes, Human, Pair 8
• Corpus Callosum (pathology)
• Face (abnormalities)
• Fertilization in Vitro
• Humans
• Karyotyping
• Magnetic Resonance Imaging
• Male
• Monosomy (pathology)
• Translocation, Genetic (physiology)
• Trisomy (pathology)