PMID- 15337475
OWN - NLM
STAT- MEDLINE
DCOM- 20041029
LR  - 20191210
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 47
IP  - 3
DP  - 2004 Jul-Sep
TI  - Inherited ring chromosome 8 without loss of subtelomeric sequences.
PG  - 289-96
AB  - 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.
FAU - Le Caignec, Cedric
AU  - Le Caignec C
AD  - Service de Genetique Medicale, Plateau Technique, Centre Hospitalo-Universitaire, 
      9, quai Moncousu, 44093 Nantes cedex, France. lecaignec@hotmail.com
FAU - Boceno, Michelle
AU  - Boceno M
FAU - Jacquemont, Sebastien
AU  - Jacquemont S
FAU - Nguyen The Tich, Sylvie
AU  - Nguyen The Tich S
FAU - Rival, Jean-Marie
AU  - Rival JM
FAU - David, Albert
AU  - David A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Amblyopia/genetics
MH  - Attention Deficit Disorder with Hyperactivity/genetics
MH  - Cells, Cultured/ultrastructure
MH  - Cerebral Cortex/abnormalities
MH  - Child
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 8/genetics/*ultrastructure
MH  - Dwarfism/*genetics
MH  - Female
MH  - Fetal Growth Retardation/diagnostic imaging/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Learning Disabilities/genetics
MH  - Lymphocytes/ultrastructure
MH  - Male
MH  - Microcephaly/*genetics
MH  - Pedigree
MH  - Pregnancy
MH  - *Ring Chromosomes
MH  - Telomere/ultrastructure
MH  - Ultrasonography, Prenatal
RF  - 20
EDAT- 2004/09/01 05:00
MHDA- 2004/10/30 09:00
CRDT- 2004/09/01 05:00
PHST- 2003/08/26 00:00 [received]
PHST- 2003/10/16 00:00 [accepted]
PHST- 2004/09/01 05:00 [pubmed]
PHST- 2004/10/30 09:00 [medline]
PHST- 2004/09/01 05:00 [entrez]
AID - S0003399503000807 [pii]
AID - 10.1016/j.anngen.2003.10.005 [doi]
PST - ppublish
SO  - Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005.