PMID- 10842290
OWN - NLM
STAT- MEDLINE
DCOM- 20000712
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 92
IP  - 4
DP  - 2000 Jun 5
TI  - Detection of a cryptic translocation in a family with mental retardation using 
      FISH and telomere region-specific probes.
PG  - 250-5
AB  - Cryptic rearrangements involving the telomeres are thought to account for a 
      substantial number of patients with unexplained mental retardation and multiple 
      congenital anomalies, although the exact incidence of these rearrangements is 
      still unclear. With the advent of chromosome-specific telomeric probes and the 
      use of FISH (fluorescence in situ hybridization), it is now possible to identify 
      submicroscopic rearrangements of the distal ends of chromosomes that may 
      otherwise go undetected using conventional cytogenetic studies. We report on a 4 
      1/2 year-old girl with severe mental retardation and minor anomalies who 
      inherited the unbalanced product of a cryptic translocation involving chromosomes 
      2 and 17 from her father. The family history was significant for early pregnancy 
      losses, stillbirths, and mental retardation in many other family members, 
      suggesting segregation of a familial translocation. This translocation was 
      detected using chromosome-specific telomere FISH probes, and not visible using 
      conventional cytogenetic methods. Collectively, this case and those previously 
      reported clearly demonstrate the value of a systematic search for cryptic 
      chromosome rearrangements in patients with unexplained mental retardation with 
      previously reported normal chromosome studies; and in particular those with a 
      family history of mental retardation, birth defects, or early pregnancy losses.
FAU - Bacino, C A
AU  - Bacino CA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA. cbacino@bcm.tmc.edu
FAU - Kashork, C D
AU  - Kashork CD
FAU - Davino, N A
AU  - Davino NA
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Chromosomes, Human, Pair 2/genetics
MH  - DNA Probes
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics/pathology
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Telomere/*genetics
MH  - *Translocation, Genetic
EDAT- 2000/06/08 09:00
MHDA- 2000/07/15 11:00
CRDT- 2000/06/08 09:00
PHST- 2000/06/08 09:00 [pubmed]
PHST- 2000/07/15 11:00 [medline]
PHST- 2000/06/08 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000605)92:4<250::AID-AJMG5>3.0.CO;2-8 [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Jun 5;92(4):250-5.