Article (Scientific journals)
Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
Uwineza, Annette; PIERQUIN, Geneviève; GAILLEZ, Stephanie et al.
2013In Genetic Counseling, 24 (2), p. 193-200
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Keywords :
Abnormalities, Multiple/genetics; Adolescent; Adult; Chromosomes, Human, Pair 13/genetics; Female; Fetal Diseases/genetics; Gestational Age; Humans; Karyotyping; Male; Pregnancy; Prenatal Diagnosis; Ring Chromosomes; Young Adult
Abstract :
[en] The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13, resulting in deletion of 13qter. The first patient, a 15 year-old boy, presented a delayed psychomotor development, mental retardation, dysmorphic features and bleeding disorders associated with a de novo terminal 13q34 deletion. The second case was a foetus of 31 weeks with prenatal diagnosis of severe malformation such as holoprosencephaly, congenital cardiac defects, gastro-intestinal abnormalities with intrauterine growth retardation, the molecular analysis showed a de novo deletion encompassing the region 13q31.3-q34.
Disciplines :
Genetics & genetic processes
Author, co-author :
Uwineza, Annette ;  Université de Liège - ULiège > CHU - @chu - AD
PIERQUIN, Geneviève ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
GAILLEZ, Stephanie ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
JAMAR, Mauricette ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
CABERG, Jean-Hubert ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
BOURS, Vincent ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Language :
English
Title :
Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
Publication date :
2013
Journal title :
Genetic Counseling
ISSN :
1015-8146
Publisher :
Éditions Médecine et Hygiène, Switzerland
Volume :
24
Issue :
2
Pages :
193-200
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 27 December 2013

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