PMID- 16333830
OWN - NLM
STAT- MEDLINE
DCOM- 20060307
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 1
DP  - 2006 Jan 1
TI  - A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis 
      chromosome region in a girl with multiple congenital anomalies.
PG  - 88-91
AB  - A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; 
      tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital 
      cystic adenomatoid malformation of the right upper lung, and hemilateral kidney 
      defect. Chromosome analysis as well as fluorescence in situ hybridization (FISH) 
      and polymorphic marker analyses in the girl and her parents revealed a de novo 
      large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 
      17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of 
      involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both 
      FISH analysis and radiological examinations that showed no migrational 
      abnormality. The girl died at age 7 months. This is the first report of a patient 
      with a large interstitial deletion of 17p.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Yamamoto, Toshiyuki
AU  - Yamamoto T
AD  - Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, 
      Japan. tyamamoto-jes@umin.ac.jp
FAU - Ueda, Hideaki
AU  - Ueda H
FAU - Kawataki, Motoyoshi
AU  - Kawataki M
FAU - Yamanaka, Michiko
AU  - Yamanaka M
FAU - Asou, Toshihide
AU  - Asou T
FAU - Kondoh, Yuki
AU  - Kondoh Y
FAU - Harada, Naoki
AU  - Harada N
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
FAU - Kurosawa, Kenji
AU  - Kurosawa K
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  - Abnormalities, Multiple/*genetics/pathology
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Ductus Arteriosus, Patent/pathology
MH  - Face/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Kidney/abnormalities
MH  - Lung/abnormalities
MH  - Pulmonary Atresia/pathology
MH  - Syndrome
MH  - Tetralogy of Fallot/pathology
EDAT- 2005/12/08 09:00
MHDA- 2006/03/08 09:00
CRDT- 2005/12/08 09:00
PHST- 2005/12/08 09:00 [pubmed]
PHST- 2006/03/08 09:00 [medline]
PHST- 2005/12/08 09:00 [entrez]
AID - 10.1002/ajmg.a.31055 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Jan 1;140(1):88-91. doi: 10.1002/ajmg.a.31055.