PMID- 20101690
OWN - NLM
STAT- MEDLINE
DCOM- 20100402
LR  - 20211020
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 2
DP  - 2010 Feb
TI  - Two siblings with alternate unbalanced recombinants derived from a large cryptic 
      maternal pericentric inversion of chromosome 20.
PG  - 373-82
LID - 10.1002/ajmg.a.33219 [doi]
AB  - Two brothers, with dissimilar clinical features, were each found to have 
      different abnormalities of chromosome 20 by subtelomere fluorescence in situ 
      hybridization (FISH). The proband had deletion of 20p subtelomere and duplication 
      of 20q subtelomere, while his brother was found to have a duplication of 20p 
      subtelomere and deletion of 20q subtelomere. Parental cytogenetic studies were 
      initially thought to be normal, both by G-banding and by subtelomere FISH 
      analysis. Since chromosome 20 is a metacentric chromosome and an inversion was 
      suspected, we used anchored FISH to assist in identifying a possible inversion. 
      This approach employed concomitant hybridization of a FISH probe to the short (p) 
      arm of chromosome 20 with the 20q subtelomere probe. We identified a 
      cytogenetically non-visible, mosaic pericentric inversion of one of the maternal 
      chromosome 20 homologs, providing a mechanistic explanation for the chromosomal 
      abnormalities present in these brothers. Array comparative genomic hybridization 
      (CGH) with both a custom-made BAC and cosmid-based subtelomere specific array 
      (TEL array) and a commercially available SNP-based array confirmed and further 
      characterized these rearrangements, identifying this as the largest pericentric 
      inversion of chromosome 20 described to date. TEL array data indicate that the 
      20p breakpoint is defined by BAC RP11-978M13, approximately 900 kb from the pter; 
      SNP array data reveal this breakpoint to occur within BAC RP11-978M13. The 20q 
      breakpoint is defined by BAC RP11-93B14, approximately 1.7 Mb from the qter, by 
      TEL array; SNP array data refine this breakpoint to within a gap between BACs on 
      the TEL array (i.e., between RP11-93B14 and proximal BAC RP11-765G16).
CI  - Copyright 2010 Wiley-Liss, Inc.
FAU - Descipio, Cheryl
AU  - Descipio C
AD  - Division of Human Genetics, The Children's Hospital of Philadelphia, 
      Philadelphia, Pennsylvania 19104, USA.
FAU - Morrissette, Jennifer D
AU  - Morrissette JD
FAU - Conlin, Laura K
AU  - Conlin LK
FAU - Clark, Dinah
AU  - Clark D
FAU - Kaur, Maninder
AU  - Kaur M
FAU - Coplan, James
AU  - Coplan J
FAU - Riethman, Harold
AU  - Riethman H
FAU - Spinner, Nancy B
AU  - Spinner NB
FAU - Krantz, Ian D
AU  - Krantz ID
LA  - eng
GR  - P50 HL074731/HL/NHLBI NIH HHS/United States
GR  - P50 HL074731-050004/HL/NHLBI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Inversion
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Comparative Genomic Hybridization
MH  - Cosmids
MH  - Family Health
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Mothers
MH  - Phenotype
MH  - Telomere/ultrastructure
PMC - PMC2840621
MID - NIHMS160993
EDAT- 2010/01/27 06:00
MHDA- 2010/04/03 06:00
PMCR- 2011/02/01
CRDT- 2010/01/27 06:00
PHST- 2010/01/27 06:00 [entrez]
PHST- 2010/01/27 06:00 [pubmed]
PHST- 2010/04/03 06:00 [medline]
PHST- 2011/02/01 00:00 [pmc-release]
AID - 10.1002/ajmg.a.33219 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Feb;152A(2):373-82. doi: 10.1002/ajmg.a.33219.