Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

doi:10.1136/jmg.35.9.784

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Article

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Journal of medical genetics - 1 Sept 1998

Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke M B, Wollmann H A

Abstract excerpt

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient s...

Topics

Child
Chromosomes, Human, Pair 17
Dwarfism
Gene Deletion
Genetic Heterogeneity
Genetic Variation
Genotype
Growth Disorders
Human Growth Hormone
Humans
Male
Multigene Family
Placental Lactogen
Syndrome

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