PMID- 23225375
OWN - NLM
STAT- MEDLINE
DCOM- 20130619
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 161A
IP  - 1
DP  - 2013 Jan
TI  - Co-existence of 9p deletion and Silver-Russell syndromes in a patient with 
      maternally inherited cryptic complex chromosome rearrangement involving 
      chromosomes 4, 9, and 11.
PG  - 179-84
LID - 10.1002/ajmg.a.35658 [doi]
AB  - We report a patient with a maternally inherited unbalanced complex chromosomal 
      rearrangement (CCR) involving chromosomes 4, 9, and 11 detected by microarray 
      comparative genomic hybridization (aCGH) and fluorescence in situ hybridization 
      (FISH). This patient presents with clinical features of 9p deletion syndrome and 
      Silver-Russell syndrome (SRS). Chromosome analysis performed in 2000 showed what 
      appeared to be a simple terminal deletion of chromosome 9p22.1. aCGH performed in 
      2010 revealed a 1.63 Mb duplication at 4q28.3, a 15.48 Mb deletion at 
      9p24.3p22.3, and a 1.95 Mb duplication at 11p15.5. FISH analysis revealed a 
      derivative chromosome 9 resulting from an unbalanced translocation between 
      chromosomes 9 and 11, a chromosome 4 fragment inserted near the breakpoint of the 
      translocation. The 4q28.3 duplication does not contain any currently known genes. 
      The 9p24.3p22.3 deletion region contains 36 OMIM genes including a 3.5 Mb 
      critical region for the 9p-phenotype. The 11p15.5 duplication contains 49 OMIM 
      genes including H19 and IGF2. Maternal aCGH was normal. However, maternal 
      chromosomal and FISH analyses revealed an apparently balanced CCR involving 
      chromosomes 4, 9, and 11. To the best of our knowledge, this is the first report 
      of a patient with maternally inherited trans-duplication of the entire imprinting 
      control region 1 (ICR1) among the 11p15.5 duplications reported in SRS patients. 
      This report supports the hypothesis that the trans-duplication of the maternal 
      copy of ICR1 alone is sufficient for the clinical manifestation of SRS and 
      demonstrates the usefulness of combining aCGH with karyotyping and FISH for 
      detecting cryptic genomic imbalances.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Hu, Jie
AU  - Hu J
AD  - Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, 
      PA. jhu@mail.magee.edu
FAU - Sathanoori, Malini
AU  - Sathanoori M
FAU - Kochmar, Sally
AU  - Kochmar S
FAU - Madan-Khetarpal, Suneeta
AU  - Madan-Khetarpal S
FAU - McGuire, Marianne
AU  - McGuire M
FAU - Surti, Urvashi
AU  - Surti U
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20121207
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Chromosome 9p Deletion Syndrome
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Cleft Palate/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Gene Duplication
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Microarray Analysis
MH  - Phenotype
MH  - Silver-Russell Syndrome/diagnosis/*genetics
MH  - Translocation, Genetic
MH  - Young Adult
EDAT- 2012/12/12 06:00
MHDA- 2013/06/20 06:00
CRDT- 2012/12/11 06:00
PHST- 2012/03/22 00:00 [received]
PHST- 2012/08/20 00:00 [accepted]
PHST- 2012/12/11 06:00 [entrez]
PHST- 2012/12/12 06:00 [pubmed]
PHST- 2013/06/20 06:00 [medline]
AID - 10.1002/ajmg.a.35658 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 
      Dec 7.