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The Natural Repertory of Prof. William Nelson

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Leukocyte adhesion deficiency (2) 21q22.3<br />

Li-Fraumeni syndrome (1) 17p13.1<br />

Lipoamide dehydrogenase deficiency (1) 7q31-q32<br />

Lipoid adrenal hyperplasia, congenital (1) Chr.15<br />

Lipoma (2) 12q13-q14<br />

Liver cell carcinoma (1) 11p14-p13<br />

Long QT syndrome (2) 11p15.5<br />

Lowe’s syndrome Xq25<br />

Lupus erythematosus, systemic (1) 1q23-q24<br />

Lymphoproliferative syndrome, X-linked (2) Xq25<br />

?Lynch cancer family syndrome II (2) 18q11-q12<br />

?Lysosomal acid phosphatase deficiency (1) 11p12-p11<br />

Macrocytic anemia <strong>of</strong> 5q syndrome II (2) 5q12-q32<br />

Macular dystrophy, atypical vitelliform (2) 8q24<br />

Macular dystrophy,?vitelline type (2) 6p25-qter<br />

?Major mental illness (2) 11p21-q22<br />

?Male infertility due to acrosin deficiency (2) 22q13-qter<br />

?Male infertility, familial 11p13<br />

?Male pseudohermaphroditism due to defective LH (1) 19q13.32<br />

Malignant hyperthermia (2) 19q13.1-q13.3<br />

Malignant melanoma, cutaneous (2) 1p36<br />

Manic-depressive illness, X-Linked (2) Xq28<br />

Mannosidosis (1) 19p13.2-q12<br />

Maple syrup urine disease (1) 19q13.1-q13.2<br />

Maple syrup urine disease, type II (1) 1p31<br />

Maple syrup urine disease, type III (3) 6p22-p21<br />

Marfan syndrome (2) 15q-q21.3<br />

Maroteaux-Lamy syndrome (1) 5q11-q13<br />

Martin-Bell syndrome/Fragile X syndrome (2) Xq27.3<br />

NASA syndrome (2) Xq28<br />

McArdle disease (1) 11q13<br />

*[McLeod phenotype] (2) Xp21.2-p21.1<br />

Medullary thyroid carcinoma (2) 10q21.1<br />

?Megacolon (2) 13q22.1-q32.1<br />

?Megaloblastic anemia 5q11.1-q13.2<br />

?Megalocomea, X-Linked (2) Xq21.3-q22<br />

Meningioma (2) 22q12.3-qter<br />

Meningioma (3) 22q12.3-q13.1<br />

Menkes disease (2) Xq12-q13<br />

Mental retardation <strong>of</strong> WAGR (2) 11p13<br />

*Mental retardation, X-Linked nonspecific, I (2) Xp22<br />

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