PMID- 12239715
OWN - NLM
STAT- MEDLINE
DCOM- 20030304
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 112
IP  - 1
DP  - 2002 Sep 15
TI  - Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic 
      rearrangements and variant acrocentric short arms.
PG  - 23-7
AB  - The recent development of a set of chromosome-specific, subtelomeric probes has 
      proved useful in diagnosis and recurrence risk counseling of patients and 
      families with mental retardation and in further characterization of known 
      chromosomal abnormalities. Cases of cryptic, subtelomeric rearrangements may 
      account for up to 7.5% of cases of idiopathic moderate-severe mental retardation. 
      We present the molecular cytogenetic studies of trisomy 14q detected by 
      subtelomeric fluorescence in situ hybridization (FISH). Our patient is a 
      3-year-old girl with growth and developmental delay, myelomeningocele, partial 
      agenesis of the corpus callosum, hypertelorism, tented mouth, simple ears, small 
      mandible, and congenital heart disease (atrial and ventricular septal defects 
      with subaortic conus). G-banded chromosome analysis was apparently normal. A set 
      of FISH-based, subtelomeric, region-specific probes revealed trisomy for 14q in 
      the child. Parental FISH studies established that the mother is a balanced 
      carrier for a half-cryptic translocation between the distal long arm of 
      chromosome 14 and the short arm of chromosome 22. FISH analysis using two BAC 
      clones that contain the imprinted genes MEG3 and DLK1, which localize to 14q32, 
      established that our patient has two maternal copies of these genes. Because the 
      child does not have features of the maternal UPD 14 syndrome, this case suggests 
      that it is absence of expression of a paternally expressed gene, rather than 
      overexpression of a maternally expressed gene, that is responsible for the 
      maternal UPD 14 phenotype.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Sutton, V Reid
AU  - Sutton VR
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA. vsutton@bmc.tmc.edu
FAU - Coveler, Karen J
AU  - Coveler KJ
FAU - Lalani, Seema R
AU  - Lalani SR
FAU - Kashork, Catherine D
AU  - Kashork CD
FAU - Shaffer, Lisa G
AU  - Shaffer LG
LA  - eng
GR  - K23 HD40843-01/HD/NICHD NIH HHS/United States
GR  - R03 HD38433/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 14
MH  - Female
MH  - *Genomic Imprinting
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - *Telomere
MH  - *Trisomy
EDAT- 2002/09/20 10:00
MHDA- 2003/03/05 04:00
CRDT- 2002/09/20 10:00
PHST- 2002/09/20 10:00 [pubmed]
PHST- 2003/03/05 04:00 [medline]
PHST- 2002/09/20 10:00 [entrez]
AID - 10.1002/ajmg.10703 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703.