PMID- 11484204
OWN - NLM
STAT- MEDLINE
DCOM- 20010913
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 3
DP  - 2001 Aug 15
TI  - Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams 
      syndrome.
PG  - 261-5
AB  - We report on a patient with Williams syndrome and a complex de novo chromosome 
      rearrangement, including microdeletions at 7q11.23 and 7q36 and additional 
      chromosomal material at 7q36. The nature of this additional material was 
      elucidated by spectral karyotyping and first assigned to chromosome 22. 
      Subsequent fluorescence in situ hybridization (FISH) experiments showed that it 
      consisted of satellite material only. Refinement of the 7q36 breakpoint was 
      performed with several FISH probes, showing a deletion distal to the 
      triphalangeal thumb (TPT) region. The phenotype of the patient principally 
      results from the microdeletion of the 7q11.23; the small deletion at 7qter and 
      the extra satellite material may not be of clinical significance.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Wouters, C H
AU  - Wouters CH
AD  - Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus 
      University, Rotterdam, The Netherlands. wouters@kgen.fgg.eur.nl
FAU - Meijers-Heijboer, H J
AU  - Meijers-Heijboer HJ
FAU - Eussen, B J
AU  - Eussen BJ
FAU - van der Heide, A A
AU  - van der Heide AA
FAU - van Luijk, R B
AU  - van Luijk RB
FAU - van Drunen, E
AU  - van Drunen E
FAU - Beverloo, B B
AU  - Beverloo BB
FAU - Visscher, F
AU  - Visscher F
FAU - Van Hemel, J O
AU  - Van Hemel JO
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Williams Syndrome/*genetics/pathology
EDAT- 2001/08/03 10:00
MHDA- 2001/09/14 10:01
CRDT- 2001/08/03 10:00
PHST- 2001/08/03 10:00 [pubmed]
PHST- 2001/09/14 10:01 [medline]
PHST- 2001/08/03 10:00 [entrez]
AID - 10.1002/ajmg.1468 [pii]
AID - 10.1002/ajmg.1468 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Aug 15;102(3):261-5. doi: 10.1002/ajmg.1468.