PMID- 16075459
OWN - NLM
STAT- MEDLINE
DCOM- 20051017
LR  - 20231111
IS  - 1552-4825 (Print)
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 137A
IP  - 3
DP  - 2005 Sep 1
TI  - Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a 
      der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of 
      reported CdLS cases with chromosome rearrangements.
PG  - 276-82
AB  - Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder 
      characterized by multisystem involvement, cognitive delay, limb defects, and 
      characteristic facial features. Recently, mutations in NIPBL have been found in 
      approximately 50% of individuals with CdLS. Numerous chromosomal rearrangements 
      have been reported in individuals with CdLS. These rearrangements may be 
      causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the 
      observed phenotype. We describe two half siblings with a 
      der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features 
      resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. 
      Region-specific BAC probes were used to fine-map the breakpoint region by 
      fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 
      breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal 
      to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p 
      deletions and terminal 12p duplications indicates that the findings in these 
      siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic 
      overlap with CdLS, we have reviewed the reported cases of chromosomal 
      rearrangements involved in CdLS to better elucidate other potential loci that 
      could harbor additional CdLS genes. Additionally, to identify chromosome 
      rearrangements, genome-wide array comparative genomic hybridization (CGH) was 
      performed on eight individuals with typical CdLS and without identifiable 
      deletion or mutation of NIPBL. No pathologic rearrangements were identified.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - DeScipio, Cheryl
AU  - DeScipio C
AD  - Division of Human Genetics and Molecular Biology, The Children's Hospital of 
      Philadelphia, School of Medicine, and The University of Pennsylvania, 
      Philadelphia 19104, USA.
FAU - Kaur, Maninder
AU  - Kaur M
FAU - Yaeger, Dinah
AU  - Yaeger D
FAU - Innis, Jeffrey W
AU  - Innis JW
FAU - Spinner, Nancy B
AU  - Spinner NB
FAU - Jackson, Laird G
AU  - Jackson LG
FAU - Krantz, Ian D
AU  - Krantz ID
LA  - eng
SI  - OMIM/122470
GR  - R01 HD039323/HD/NICHD NIH HHS/United States
GR  - R01-HD039323/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
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 Banding
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - De Lange Syndrome/*genetics/pathology
MH  - Female
MH  - Genome, Human
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Nucleic Acid Hybridization/methods
MH  - Siblings
MH  - *Translocation, Genetic
PMC - PMC4896149
MID - NIHMS790267
EDAT- 2005/08/03 09:00
MHDA- 2005/10/18 09:00
PMCR- 2016/06/07
CRDT- 2005/08/03 09:00
PHST- 2005/08/03 09:00 [pubmed]
PHST- 2005/10/18 09:00 [medline]
PHST- 2005/08/03 09:00 [entrez]
PHST- 2016/06/07 00:00 [pmc-release]
AID - 10.1002/ajmg.a.30857 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857.