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News:
Molecular Genetics - Reproductive Genetics
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disease
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OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
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Reproductive Genetics
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Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
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Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
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8q21
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Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
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CYP21
(S / MLPA)
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6p21.3
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Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency
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1p13.1
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Androgen Insensitivity /Testicular Feminization Syndrome
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Xq11-q12
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CBAVD
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CFTR
(36 Mutationen)
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7q31.2
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Kallmann Syndrome, autosomal dominant, KAL2
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8p11.2-p11.1
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Kallmann Syndrome, X chromosomal, KAL1
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KAL1
(FISH / S)
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Xp22.3
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Ovarian Failure Hypergonadotropic / Ovarian Dysgenesis 1
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2p21-p16
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¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion