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Superscreen™ - 21 syndromes

 

mlpaSuperscreen™ – 21 syndromes – using a method known as MLPA (Multiplex Ligation-dependent Probe Amplification,http://www.mrc-holland.com/WebForms/WebFormMain.aspx?Tag=zjCZBtdOUyAt3KF3EwRZhNWLtcfv9pVl/tHJIM\fa9FWO8KMqctOGIoqYwxaGF9Y), we exclude 21 DNA microdeletions associated with known, well-documented syndromes.

For a brief description of each syndrome, please refer to the table below. These microdeletions cumulatively account for approximately 10% of idiopathic mental retardation.


The Superscreen™ – 21 syndromes kit excludes the syndromes listed below.

Syndrome
Region    Characteristic features of syndrome
1p36 deletion syndrome* 1p36 Mental retardation, microchephaly, congenital heart defects, cleft lip
2p16 microdeletion
2p16.1
Moderate to severe mental retardation
3q29 microdeletion
3q29
Mild to moderate mental retardation
9q22.3 microdeletion 
q22.3
Mental retardation, overgrowth, trigonocephaly
15q24 deletion syndrome 
15q24
Mental retardation, growth retardation
17q21 deletion syndrome
17q21.31
Mental retardation, severe hypotonia, blepharophimosis and other dysmorphic features. A microduplication of this region has also been described with psychomotor developmental delay and dysmorphism.
22q13/Phelan McDiarmid 22q13
neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour
Cri-du-chat syndrome*
5p15 Severe psychomotor and mental retardation, facial dysmorphia, characteristic cat-like cry at infancy, scoliosis
DiGeorge *
22q11.21 
Congenital heart defects (outflow defects), thyroid aplasia, hypocalcaemia, mild dysmorphism. Also VCFS (velocardiofacial syndrome) or Schprinzen
DiGeorge region II 10p15.1 
Similar to DiGeorge syndrome. This is a rarer deletion.
Langer-Giedion syndrome 8q24.12 
multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, sparse scalp hair, multiple cartilaginous exostoses, redundant skin, and mental retardation. Also known as trichorhinophalangeal syndrome
Miller-Dieker syndrome* 17p13.3 Severe mental retardation, lissencephaly, severely shortened life expectancy, cardiac malformations
NF1 microdeletion (neurofibromatosis)
17q11.2
Cafe au lait spots and other fibromatous tumours of the skin, usually arising during adolescence, occasionally mental retardation
Prader-Willi/Angelman*
15q12 Prader-Willi: hypotonia at birth, moderate mental retardation, obesity, hypogonadism
MECP2/Xq28 duplication/Rett syndrome
Xq28 
Autism, ataxia, loss of purposeful use of hands, seizures, mental retardation, absent speech. Mostly seen in females.
Rubinstein-Taybi syndrome
16p13.3 Mental retardation, broad thumbs and toes, facial abnormalities, constipation
Smith-Magenis syndrome*
17p11.2 
Mild to moderate mental retardation, dysmorphism, delayed speech, behavioural problems (aggressive, disruptive behaviour, episodes of self-mutilation). See also Potocki-Lubski syndrome
Sotos syndrome*
5q35.3
Cerebral gigantism with mental retardation, acromegaly, excessive growth
WAGR syndrome 11p13
Aniridia, genito-urinary abnormalities, Wilms tumours and general predisposition for other tumours, mental retardation
Williams syndrome* 
7q11.23
Mild to moderate mental retardation, hypercalcaemia, characteristic elfin features, supravalvular aortic stenosis

Wolf-Hirschhorn syndrome*

4p16.3
severe growth retardation and mental defect, microcephaly, 'Greek helmet' facies, (cleft lip or palate, coloboma of the eye) and cardiac septal defect
* FISH probes also available.
 


 
   
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