PMID- 10361988
OWN - NLM
STAT- MEDLINE
DCOM- 19990716
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 4
DP  - 1999 Apr
TI  - An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 
      2p25.3 in a child with mental retardation: uses and limitations of fluorescence 
      in situ hybridization.
PG  - 265-8
AB  - We report on a 5-year-old boy with minor anomalies, growth retardation, and 
      developmental delay carrying an extra chromatin material on the terminal band of 
      the long arm of chromosome 6. To determine the origin of this extra material, 
      whole chromosome fluorescence in situ hybridization (FISH) was used initially. 
      Results showed fully painted 6qs, excluding the possibility of a derivative. 
      However, maternal cytogenetic investigation suggested the presence of a possible 
      half-cryptic balanced translocation that was further assessed using specific 
      subtelomeric FISH probes of chromosome 6. Results showed that the 6q subtelomeric 
      region was translocated on an A-group chromosome that was ultimately 
      characterized, using FISH, as chromosome 2. This illustrates the use of specific 
      subtelomeric regions and the limitations of whole chromosome FISH to identify the 
      origin of a subtle chromosomal abnormality.
FAU - Batanian, J R
AU  - Batanian JR
AD  - Department of Pediatrics, Health Sciences Center, St. Louis University School of 
      Medicine, MO 63104, USA. batanijr@slu.edu
FAU - Hussain, M I
AU  - Hussain MI
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (DNA Probes)
SB  - IM
MH  - *Chromosomes, Human, Pair 2
MH  - *Chromosomes, Human, Pair 6
MH  - DNA Probes
MH  - Developmental Disabilities/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - *Translocation, Genetic
EDAT- 1999/06/11 00:00
MHDA- 1999/06/11 00:01
CRDT- 1999/06/11 00:00
PHST- 1999/06/11 00:00 [pubmed]
PHST- 1999/06/11 00:01 [medline]
PHST- 1999/06/11 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550409.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Apr;55(4):265-8. doi: 10.1034/j.1399-0004.1999.550409.x.