What is

? Angelman Syndrome
Angelman syndrome is a
genetic disorder that causes
developmental delay and
neurological problems. The
physician Harry Angelman
first delineated the syndrome
.in 1965
? What is Prader willi Syndrome
PWS is a complex genetic disorder that includes
short stature, mental retardation or learning
disabilities, incomplete sexual development,
characteristic behavior problems, low muscle tone,
and an involuntary urge to eat constantly, which,
coupled with a reduced need for calories, leads to
.obesity
In 1887, Langdon-Down described the first patient
with PWS
described in 1956 by Andrea Prader whoreported a
.series of patients with similar phenotypes
PWS
: Cause
PWS results from the loss of the paternal copy
.of chromosome 15 q11.2-13
Most cases of PWS arise sporadically. More
than 70% of patients have a deletion of the
paternal copy; approximately 25% of patients
with PWS have maternal uniparental disomy for
chromosome 15. The remainder of patients with
this disorder have a translocation or other
. structural alteration in chromosome 15
AS
Cause
Anglman Syndrome is caused by an
abnormality on chromosome 15 which
occurs around the time of conception.
The majority of cases (about 70%) are
caused by a deletion on the
chromosome 15 inherited from the
, mother
AS can be caused by a large
deletion of the region of the
maternal chromosome 15 that
contains UBE3A,or by a DNA
sequence change (mutation) in
the UBE3A gene inherited from
the mother
UBE3A This gene encodes a
protein called a ubiquitin protein
ligase, and UBE3A is believed to
. be the causative gene in AS
AS can also be caused
by inheritance of 2
normal copies of UBE3A
from the father with no
copy inherited from the
.mother
Another cause of AS, referred to as
imprinting defect, occurs when the
chromosome 15 inherited from the
mother has the paternal pattern of
gene functioning and DNA
.methylation
Angelman Syndrome Symptoms
Developmental delay, functionally severe-1
Speech impairment, none or minimal use of-2
;words
receptive and non-verbal communication-3
skills higher than verbal ones
seizures-4
Movement or balance disorder, usually ataxia-5
of gait and/or tremulous movement of limbs
Behavioral uniqueness: any combination of-6
frequent
laughter/smiling; apparent happy demeanor;-7
easily excitable personality, often with hand
flapping movements; hypermotoric behavior;
short attention span
?Why it is called happy Puppet
Because of laughter and happiness . The
laughter in AS seems mostly to be an
expressive motor event; most reactions to
stimuli, physical or mental, are accompanied
by laughter or laughter-like facial grimacing.
Although AS children experience a variety of
.emotions, apparent happiness predominates
 -1Fluorescent in situ hybridization FISH
is the preferred method of identifying the
deletion since it is typically not detected by
routine chromosome study. Alternatively,
comparative genomic hybridization (CGH)
.can be used to detect the deletion
Uniparental disomy (UPD) study-2
In approximately 7% of individuals, .
uniparental disomy (UPD) is detected using
DNA polymorphism testing-3
.Targeted mutation analysis
Sequence analysis-4
AS has been reported
throughout the world among
divergent racial groups. In
North America, the great
majority of known cases seem
to be of Caucasian origin.
Although the exact incidence
of AS is unknown, an estimate
of between 1 in 15,000 to 1 in
`30,000 seems reasonable
The incidence of PWS is
between 1 in 12,000 and
1 in 15,000 live births
AS
PWS
‫• اعداد الطالب ‪:‬‬
‫باسل الخياط‬
‫‪Group 4‬‬