Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.

Abstract

A 40 year-old dysmorphic and mentally retarded female is reported with a de novo unbalanced chromosomal rearrangement (karyotype: 46,XX,der(8)t(8;13)(p23;q123),idic(13)(pter-->q123: q123-->pter) resulting in an isodicentric chromosome 13 and a double aneusomy including partial trisomy 13 (13pter-q123) and distal monosomy 8p (8pter-p23). The main clinical findings consist of developmental/mental retardation, behavioural disturbances and minor congenital defects, not consistent with the clinical pattern of either of the two aneusomies. A mechanism for the chromosome rearrangement is proposed and the absence of specific physical findings in the present patient is discussed in the light of the available literature data.

• Authors: T Lukusa, L van den Berghe, E Smeets, J P Fryns
• Journal: Annales de genetique (Ann Genet) Vol. 42 Issue 4 Pg. 215-20 ( 1999) ISSN: 0003-3995 [Print] Netherlands
• PMID: 10674161 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Chromosome Mapping
• Chromosomes, Human, Pair 13
• Chromosomes, Human, Pair 8
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (genetics)
• Karyotyping
• Mental Disorders (genetics)
• Monosomy
• Translocation, Genetic
• Trisomy