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.
MeSH
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 -