An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.

[cohen syndrome]

We have developed an integrated map for a 35 -cM area of human chromosome 8 surrounding the Langer-Giedion syndrome deletion region . This map spans from approximately 8 q 22 to 8 q 24 and includes 10 hybrid cell intervals , 89 polymorphic STSs , 118 ESTs , and 37 known genes or inferred gene homologies . The map locations of 25 genes including osteoprotegerin , syndecan-2 , and autotaxin have been refined from the general locations previously reported . In addition , the map has been used to indicate the location of nine deletions in patients with Langer-Giedion syndrome and trichorhinophalangeal syndrome type I to demonstrate the potential usefulness of the map in the analysis of these complex syndromes . The map will also be of interest to anyone trying to clone positionally disease genes in this region , such as Cohen syndrome (8 q 22 -q 23 ), Klip-Feil syndrome (8 q 22 .2 ), hereditary spastic paraplegia (8 q 24 ), and benign adult familial myoclonic epilepsy (8 q 23 .3 -q 24 .1 ).

Diseases
Validation

Diseases presenting "epilepsy" symptom

22q11.2 deletion syndrome

adrenomyeloneuropathy

alexander disease

canavan disease

classical phenylketonuria

cohen syndrome

cowden syndrome

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

pendred syndrome

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated