Present case Braddock
Case (1)
Byrd
[28]
Katzaki
Case (1)
Guion-
Almeida
[8]
Yamamoto [14]
case (2)
Valetto et al,
[4] (1)
Izumi et
al.,
Oemega,
[7]
Roberson[1]
case (1)
Chromosomaldeletion 36,854967
46,006008
30.02-
37.55 Mb
30.69-
37.00 Mb
33.45-
36.36 Mb
46.625-
46.884
36,156,827
46,944,323
37,713441-
42,665162
32,273, -
34,.168,
37053-
41102
42.047-
46.909
Size of the deletion 9.151 Mb 7.5 Mb 6.3 Mb 2.29 Mb 219 Kb 9,897 Mb 4.95 Mb 1.9 Mb 4.049 Mb 4.86 Mb
Age/sex 2mn/M         16 yr/ F 11 yr/M 2 mn/ F M 3.8 yr/ M
Curly or/ sparse hair -/ + + /+     -/ + ---   +/-    
High forehead + +       +   -   -
Downslanted
palpebral fissure
  + + +   hypertelorism  Long palpeb.
fissure
+    Epicanthic
fold
Posteriorly rotated
(dysplastic) ears
+ + +     + Large ears - Low set
dysplastic
Simple ears
Broad nasal root + +   + +     +  Deep nasal
bridge
 
Prominent nose +         + +      
Cleft lip/palate/
Thin upp lip
-/Thin lips + + - + + Thin upp. lip +   Large mouth
Microcephaly +       + + + +   dolicocephaly
Micrognathia/
retrognathia
+ + + -   +/ + +/ + + +/ + ---
Cong. Heart disease VSD VSD ASD -   PDA no ASD   no
Hematology
thrombocytopenia
anemia + + +     normal -    
CNS:
holoprosencephaly
+ - -   encephaloc
ele
colpocepha
ly
 Noholoprose ID severe - ID --
Agenesis/
hypoplasia of
corpus callosum 
+ + + + +   hypoplastic
corpus
callosum
- Abn. Rt.
Frontal cortex
Polymicrogiri
--
Developmental
delay/delay speech
+ + + + - +/severe
delayed
speech
+/absentspeech + + Speech
delay
Epilepsy + -       + + - + --
Inguinal hernia + -           -   +
Undesended testis
hypospadias
+ -           -   --
Scoliosis/sacral
dimple
+ -       scoliosis   -   Sacral dimple
Table 2: Comparison of the phenotypes and deletion size in chromosome 21q among different reported cases.