PMID- 15578619
OWN - NLM
STAT- MEDLINE
DCOM- 20050418
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 132A
IP  - 2
DP  - 2005 Jan 15
TI  - Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two 
      cases.
PG  - 175-80
AB  - Thirty patients have been described with cytogenetically visible deletion of the 
      short arm of chromosome 6. However, subtelomeric 6p deletion detected by 
      subtelomeric specific probes has been reported only twice. We report two new 
      patients with terminal 6p deletion detected by subtelomeric screening using 
      fluorescence in situ hybridization (FISH). The two patients exhibited mental 
      retardation, ocular abnormalities, hearing loss, and a characteristic facial 
      appearance. Detailed FISH analyses with probes covering the distal 6p25 region 
      estimated the size of the terminal deletions to approximately 5.5 Mb and 
      approximately 4.8 Mb. Array-based comparative genomic hybridization (array CGH) 
      was used to confirm the cryptic deletions. Most patients with subtelomeric 
      defects lack a characteristic phenotype. However, some of the subtelomeric 
      deletions result in a specific phenotype, which can direct the clinician towards 
      the diagnosis. Submicroscopic 6p deletion appears to be a recognizable clinical 
      phenotype, and this region should be thoroughly investigated with FISH probes, 
      including at least a subtelomeric 6p probe and a probe covering FOXC1, for 
      patients presenting with a characteristic facial appearance, ocular 
      abnormalities, predominantly anterior-chamber eye defects, hearing loss, and 
      mental retardation.
FAU - Le Caignec, Cedric
AU  - Le Caignec C
AD  - Service de Genetique Medicale, Centre Hospitalo-Universitaire, Nantes, France. 
      lecaignec@hotmail.com
FAU - De Mas, Philippe
AU  - De Mas P
FAU - Vincent, Marie-Claire
AU  - Vincent MC
FAU - Boceno, Michelle
AU  - Boceno M
FAU - Bourrouillou, Georges
AU  - Bourrouillou G
FAU - Rival, Jean-Marie
AU  - Rival JM
FAU - David, Albert
AU  - David A
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Eye Abnormalities
MH  - Face/abnormalities
MH  - Hearing Loss
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/pathology
MH  - Microsatellite Repeats
MH  - Nucleic Acid Hybridization/methods
MH  - Telomere/genetics
RF  - 27
EDAT- 2004/12/04 09:00
MHDA- 2005/04/19 09:00
CRDT- 2004/12/04 09:00
PHST- 2004/12/04 09:00 [pubmed]
PHST- 2005/04/19 09:00 [medline]
PHST- 2004/12/04 09:00 [entrez]
AID - 10.1002/ajmg.a.30409 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jan 15;132A(2):175-80. doi: 10.1002/ajmg.a.30409.