Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.

• Authors: Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper, Michael R Speicher
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 7 Pg. 1806-12 (Jul 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 23695988 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Triazines
• Lamotrigine

Topics

• Adult
• Chromosomes, Human, Pair 18 (genetics)
• Electroencephalography
• Epilepsy (drug therapy, genetics)
• Face (abnormalities)
• Humans
• Intellectual Disability (genetics)
• Lamotrigine
• Male
• Triazines (therapeutic use)
• Trisomy (genetics)