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.
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.
Lukusa
T
T
Centre for Human Genetics, University Hospital of Leuven, Belgium.
van den Berghe
L
L
Smeets
E
E
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D001523:Mental Disorders / Q000235:genetics; D009006:Monosomy; D014178:Translocation, Genetic; D014314:Trisomy