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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.
Ann Genet. 1999; 42(4):215-20.AG

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+Show Affiliations

Lukusa T
Centre for Human Genetics, University Hospital of Leuven, Belgium.
van den Berghe L
No affiliation info available
Smeets E
No affiliation info available
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleAdultChromosome MappingChromosomes, Human, Pair 13Chromosomes, Human, Pair 8FemaleHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingMental DisordersMonosomyTranslocation, GeneticTrisomy

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10674161

Citation

Lukusa, T, et al. "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." Annales De Genetique, vol. 42, no. 4, 1999, pp. 215-20.
Lukusa T, van den Berghe L, Smeets E, et al. 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. Ann Genet. 1999;42(4):215-20.
Lukusa, T., van den Berghe, L., Smeets, E., & Fryns, J. P. (1999). 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. Annales De Genetique, 42(4), 215-20.
Lukusa T, et al. 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. Ann Genet. 1999;42(4):215-20. PubMed PMID: 10674161.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Lukusa,T, AU - van den Berghe,L, AU - Smeets,E, AU - Fryns,J P, PY - 2000/2/16/pubmed PY - 2000/3/11/medline PY - 2000/2/16/entrez SP - 215 EP - 20 JF - Annales de genetique JO - Ann. Genet. VL - 42 IS - 4 N2 - 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. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/10674161/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_ L2 - http://www.diseaseinfosearch.org/result/1446 DB - PRIME DP - Unbound Medicine ER -