Titre
Inherited ring chromosome 8 without loss of subtelomeric sequences
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Le Caignec, C.
Auteure/Auteur
Boceno, M.
Auteure/Auteur
Jacquemont, S.
Auteure/Auteur
Nguyen The Tich, S.
Auteure/Auteur
Rival, J. M.
Auteure/Auteur
David, A.
Auteure/Auteur
Liens vers les personnes
ISSN
0003-3995
Statut éditorial
Publié
Date de publication
2004-09
Volume
47
Numéro
3
Première page
289
Dernière page/numéro d’article
96
Peer-reviewed
Oui
Notes
Case Reports
Journal Article
Review --- Old month value: Jul-Sep
Journal Article
Review --- Old month value: Jul-Sep
Résumé
We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child's karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,-8[2] and the mother's karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,-8[2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.
Sujets
PID Serval
serval:BIB_FB5E323A30ED
PMID
Date de création
2008-02-28T09:42:39.188Z
Date de création dans IRIS
2025-05-21T07:06:08Z