Preface Jarind's Letters Sims'Letters Genetic Lists Prevention Letters of Signs
Dna.gif (16225 bytes)dr_ben.jpg (8313 bytes) Genetic Lists of Abnormal Genes
( Lists of sims.jpg (11560 bytes) Sims' Letters)
Chr_patt.jpg (29239 bytes)

 

Q = Brain,head & central nervous system

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Hydrocephalus


q1 = Anencephaly ( Multifactorial inheritance )
q2 = Ataxia telangiectasia autosomal recessive
q3 = Behr's Syndrome ( partial Friedreich's ataxia,
short stature,marked mental retardation & cataracts )

q4 = Bony defect here (in Frontal meningocoele) Multifactorial inheritance
q5 = Cerebromacular degenerations ( Bielschowsky )
autosomal recessive
Q6 = Crouzon's disease ( Craniofacial dysostosis )
( Acrocephaly,hypoplastic maxilla,beaked nose,
protrusion of the lower lip,exophthalmos,exotropia
and hypertelorism )
Q7,q7 = Diffuse cerebral sclerosis ( Pelizaeus-Merzbacher type )
X-linked dominant? or recessive?
Q8,q8 = Diffuse cerebral sclerosis
( Sholz type) )
X-linked dominant? or recessive?
q9 = Epilepsy ( Multifactorial inheritance )
q10 = Familial sudanophilic leukodystrophy

q11 = Franchescetti's Syndrome
( partial Friedreich's ataxia with external ophthalmoplegia )

q12 = Friedreich's ataxia ( Spinocerebellar degeneration )
Q13 = Hereditary Olivopontocerebellar Atrophy autosomal dominant
q14 = Roussy-Levy Syndrome
( ataxia,pes cavus muscular atrophy )

Q15 = Huntington' s chorea autosomal dominant
q16 = Hydrocephalus ( Multifactorial inheritance )
Q17 = Hypertelorism ( in 5p-,trisomy18 syndrome )
Q18 = Hypotelorism ( in trisomy13 syndrome )
q19 = Lowe's oculocerebrorenal syndrome X-linked recessive
q20 = Marinesco-Sjogren Syndrome ( partial Friedreich's ataxia,
short stature,marked mental retardation & cataracts )

Q21 = Microcephaly ( in 5p-,13q-,trisomy13 syndrome )
q21 = Microcephaly ( some types ) X-linked recessive
Q22 = Micrognathia ( in 4p-,Trisomy 8,18 syndrome )
q23 = Neuroaxonal degeneration
( Seitelberger )
autosomal recessive
q24 = Spongy sclerosis ( Canavan's ) autosomal recessive
q25 = Subacute necrotizing encephalo-myelopathy
( Leigh's ) autosomal recessive
Q26 = Tower skull( Long narrow face & Pointed head )
autosomal dominant in Marfan's syndrome
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Dr.Jarind B. Sriraumpuch

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