|
| |
Table of the common syndromes that are diagnosed by FISH study.
|
Microdeletions:
stand alone with FISH being primary study
|
|
Williams
S.
|
del(7)(q11.2q11.2)
|
[Elastin]
Ewart et al., 1993
|
|
Prader-Willi
S
|
.
del(15)(q11.2q11.2)
|
Cassidy
and Schwartz, 1998
|
|
Angelman
S.
|
del(15)(q11.2q11.2)
|
Cassidy
and Schwartz, 1998
|
|
Miller-Dieker
S./lissencephaly
|
del(17)(p13.3p13.3)
|
Pilz
et al., 1998; Kuwano et al., 1991
|
|
HNPP
(hereditary neuropathy with liability to pressure palsies)
|
del(17)(p11.2p11.2)
|
Shaffer
et al., 1997
|
|
Velocardiofacial
S.
|
del(22)(q11.2q11.2)
|
Scambler
et al., 1992
|
|
Microdeletions:
stand alone with FISH secondary to chromosome studies
|
|
Wolf-Hirschhorn
S.
|
del(4)(p15)
|
Altherr
et al., 1991
|
|
Cri-du-chat
S.
|
del(5)(p15)
|
Gersh
et al., 1995
|
|
Smith-Magenis
S.
|
del(17)(p11.2p11.2)
|
Juyal
et al., 1995
|
|
Microduplication
|
|
|
|
Charcot-Marie-Tooth
1A
|
dup(17)(p11.2p11.2)
|
Shaffer
et al., 1997
|
|
Pelizaeus-Merzbacher
|
dup(X)(q22q22)
|
Woodward
et al., 1998
|
For more information
about clinical assessment of FISH studies, please read the Statement of the
ASHG/ACMG (Acrobat Reader is needed to open this
file)
|
