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Inherited ring chromosome 8 without loss of subtelomeric sequences
- Source :
- Annales de genetique. 47(3)
- Publication Year :
- 2003
-
Abstract
- 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.
- Subjects :
- Proband
Adult
Male
Microcephaly
Ring chromosome
Chromosome Disorders
Dwarfism
Biology
Amblyopia
Short stature
Ultrasonography, Prenatal
Pregnancy
Genetics
medicine
Humans
Abnormalities, Multiple
Ring Chromosomes
Lymphocytes
Child
Cells, Cultured
In Situ Hybridization, Fluorescence
Cerebral Cortex
Fetal Growth Retardation
medicine.diagnostic_test
Learning Disabilities
Karyotype
Telomere
medicine.disease
Subtelomere
Pedigree
Developmental disorder
Attention Deficit Disorder with Hyperactivity
Female
medicine.symptom
Fluorescence in situ hybridization
Chromosomes, Human, Pair 8
Subjects
Details
- ISSN :
- 00033995
- Volume :
- 47
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Annales de genetique
- Accession number :
- edsair.doi.dedup.....29271dee673adbab31cd4b2ba0e8beed