PMID- 17497725
OWN - NLM
STAT- MEDLINE
DCOM- 20070803
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 11
DP  - 2007 Jun 1
TI  - Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with 
      Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based 
      comparative genomic hybridization.
PG  - 1191-7
AB  - We report on a 2-year-old Japanese girl with Cornelia-de Lange syndrome (CdLS) 
      who had mental and growth retardation, together with characteristic facial 
      anomalies and mild extremity malformations. She had a balanced chromosomal 
      translocation, 46,XX,t(5;13)(p13.1;q12.1) de novo. Surprisingly, this was the 
      same translocation that had provided a clue to the identification of a major 
      causative gene for CdLS, NIPBL [Krantz et al., 2004; Tonkin et al., 2004]. Using 
      fluorescence in situ hybridization (FISH), the breakpoint was confirmed to lie 
      within NIPBL at 5p13.1. Furthermore, array-based comparative genomic 
      hybridization (array-CGH) demonstrated a cryptic 1-Mb deletion harboring six 
      known genes at 1q25-q31.1. A FISH analysis of her parents confirmed that the 
      deletion was de novo. Although patients with interstitial deletions at 1q are 
      rare, some of their features were similar to those observed in our patient, 
      indicating that her clinical manifestations are likely to be affected by not only 
      the disruption of NIPBL but also the concomitant microdeletion at 1q25-q31.1. The 
      present case suggests that array-CGH can uncover cryptic genomic aberrations 
      affecting atypical phenotypes even in well-known congenital disorders.
CI  - Copyright (c) 2007 Wiley-Liss, Inc.
FAU - Hayashi, Shin
AU  - Hayashi S
AD  - Department of Molecular Cytogenetics, Medical Research Institute and School of 
      Biomedical Science, Tokyo Medical and Dental University, and Department of 
      Pediatrics, Tokyo Teishin Hospital, Tokyo, Japan.
FAU - Ono, Masae
AU  - Ono M
FAU - Makita, Yoshio
AU  - Makita Y
FAU - Imoto, Issei
AU  - Imoto I
FAU - Mizutani, Shuki
AU  - Mizutani S
FAU - Inazawa, Johji
AU  - Inazawa J
LA  - eng
PT  - Case Reports
PT  - Journal Article
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, Preschool
MH  - Chromosome Banding
MH  - Chromosome Breakage
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - De Lange Syndrome/*genetics
MH  - Female
MH  - Genome, Human/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Translocation, Genetic
EDAT- 2007/05/15 09:00
MHDA- 2007/08/04 09:00
CRDT- 2007/05/15 09:00
PHST- 2007/05/15 09:00 [pubmed]
PHST- 2007/08/04 09:00 [medline]
PHST- 2007/05/15 09:00 [entrez]
AID - 10.1002/ajmg.a.31737 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jun 1;143A(11):1191-7. doi: 10.1002/ajmg.a.31737.