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.