Preface

Jarind's Letters

Sims'Letters

Genetic Lists

Prevention

Letters of Signs

Genetic Lists of Abnormal Genes ( Lists of Sims' Letters)

 

Trisomy 21(G) Syndrome
Typical facies, with epicanthal folds, slanted palpebral
fissures,short-broad hands with simian crease and
clinodactyly of 5th digit. Brushfield spots on iris, small
hypoplastic ears, wide gap between 1st and 2nd toes
with fissured tongue in adults. 

N71 = Abnormality in 17Q-
N72 = Abnormality in 18P+
N73 = Abnormality in 18P-
N74 = Abnormality in 18Q+
N75 = Abnormality in 18Q-
N76 = Abnormality in 18+
( Trisomy 18 ,Trisomy E  or Edward 's syndrome )
N77 = Abnormality in 19P+
N78 = Abnormality in 19P-
N79 = Abnormality in 19Q+
N80 = Abnormality in 19Q-
N81 = Abnormality in 20P+
N82 = Abnormality in 20P-
N83 = Abnormality in 20Q+
N84 = Abnormality in 20Q-
N85 = Abnormality in 21P+
N86 = Abnormality in 21P-
N87 = Abnormality in 21Q+
N88 = Abnormality in 21Q-
N89 = Abnormality in 21+
( Trisomy 21(G), Down's syndrome )
N90 = Abnormality in 22P+
N91 = Abnormality in 22P-
N92 = Abnormality in 22Q+-
N93 = Abnormality in 22Q-
N94 = Abnormality in 22+ ( Trisomy 22 )
N95 = Abnormality in 22- ( Monosomy 22 )
Abnormality in Chromosome 23
N96,n96 = Fragile X syndrome
N97 = Klinefelter' s syndrome(XXY)
N98 = Polysomy X syndrome(XXX,XXX...)
N99 = Polysomy Y syndrome(XYY,XX...YY..)
N100 = Turner's syndrome(X0,Gonadal Dysgenesis)
Chromosomal instability
(Chromosomal Breakage Syndrome)
n101 = Ataxia-telangiectasia autosomal recessive
( Immune deficiency with ataxia ) 
n102 = Bloom syndrome autosomal recessive
n103 = De Toni-Fanconi-Debre syndrome autosomal recessive
n104 = Glutathione reductase deficiency autosomal recessive
n105 = Kostmann's agranulocytosis autosomal recessive
n106 = Pernicious anemia autosomal recessive
n107 = Xeroderma pigmentosum autosomal recessive
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Update since 10/09/50