PMID- 16267671
OWN - NLM
STAT- MEDLINE
DCOM- 20060522
LR  - 20181113
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 118
IP  - 5
DP  - 2006 Jan
TI  - Ring chromosome 15: characterization by array CGH.
PG  - 611-7
AB  - Ring chromosome 15 [r(15)] is an uncommon finding with less than 50 patients 
      reported. Precise genotype-phenotype correlations are problematic because of the 
      difficulties in determining the extent of euchromatic loss, the level of 
      mosaicism, and the influence of the timing of ascertainment. We report two 
      discordant examples of r(15) patients. In the first case, prenatal diagnosis of a 
      de novo r(15) was made during the second trimester: mos 
      46,XX,r(15)(p11.2q26)[32]/45,XX,-15[13]/47,XX,r(15)(p11.2q26)x2[3]/46,XX,dic 
      r(15)(p11.2q26p11.2q26[1]/46,XX[2]. Postnatal follow-up revealed extremely small 
      stature, heart defects, and developmental delay. Patient 2 was a 31-year-old 
      short-statured female who was living independently: 46,XX,r(15)(p11q26). Both 
      cases showed loss of the 15q subtelomeric region by fluorescence in situ 
      hybridization (FISH). To investigate the discordance in phenotypes between the 
      two patients, we undertook array comparative genomic hybridization (array CGH) 
      analyses to more fully characterize the deletions associated with these otherwise 
      structurally indistinguishable r(15) chromosomes from conventional cytogenetic 
      analyses and fluorescence in situ hybridization (FISH) studies. By array CGH, 
      patient 1 showed deletion of multiple contiguous clones predicting an 
      approximately 6 Mb deletion of distal 15q. In contrast, patient 2 showed loss of 
      just the 15q subtelomeric clone and an interstitial clone by array CGH confirming 
      that the severity of the phenotype correlated with the size of the deletion at 
      the molecular level. These cases illustrate the utility of array CGH 
      characterization for determining the size of the associated deletion in ring 
      chromosomes and for facilitating phenotype-genotype correlations.
FAU - Glass, Ian A
AU  - Glass IA
AD  - Department of Pediatrics, University of Washington, M2-9, 4800 Sand Point Way NE, 
      Seattle, 98105, USA. ianglass@u.washington.edu
FAU - Rauen, Katherine A
AU  - Rauen KA
FAU - Chen, Emily
AU  - Chen E
FAU - Parkes, Jillian
AU  - Parkes J
FAU - Alberston, Donna G
AU  - Alberston DG
FAU - Pinkel, Daniel
AU  - Pinkel D
FAU - Cotter, Philip D
AU  - Cotter PD
LA  - eng
GR  - CA83040/CA/NCI NIH HHS/United States
GR  - CA84118/CA/NCI NIH HHS/United States
GR  - HD048502/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20051103
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 15
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Nucleic Acid Hybridization/*genetics
MH  - Phenotype
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - *Ring Chromosomes
EDAT- 2005/11/04 09:00
MHDA- 2006/05/23 09:00
CRDT- 2005/11/04 09:00
PHST- 2005/05/02 00:00 [received]
PHST- 2005/06/27 00:00 [accepted]
PHST- 2005/11/04 09:00 [pubmed]
PHST- 2006/05/23 09:00 [medline]
PHST- 2005/11/04 09:00 [entrez]
AID - 10.1007/s00439-005-0030-z [doi]
PST - ppublish
SO  - Hum Genet. 2006 Jan;118(5):611-7. doi: 10.1007/s00439-005-0030-z. Epub 2005 Nov 
      3.