A subterminal deletion of the long arm of chromosome 10: a clinical report and review.
We report on a girl with mental retardation, dysmorphic features, and behavioral problems. A small terminal deletion of the long arm of chromosome 10 was detected by subtelomeric fluorescence in situ hybridization (FISH) studies in all analyzed metaphases. The deletion was shown to be a de novo terminal deletion of approximately 6.1 Mb, with the deletion breakpoint localized at band 10q26.2, between BAC probes RP11-498K22 and RP11-42K2. A subterminal 10q deletion as found in the present patient has, to our knowledge, only been reported in 15 patients (including 8 familial cases). We review the clinical and behavioral phenotype of these patients with "pure" subterminal 10q deletion.
Courtens
Winnie
W
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium. winnie.courtens@ua.ac.be
Wuyts
Wim
W
Rooms
Liesbeth
L
Pera
Sarah Barbera
SB
Wauters
Jan
J
D000328:Adult; D002653:Child Behavior Disorders / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male