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Literature DB >> 3178273

Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.

S S Abusrewil¹, A McDermott, D C Savage.
1. Bristol Children's Hospital.

Abstract

A boy with a ring 18 chromosome karyotype was referred because of short stature; he had growth hormone deficiency and possible hypogonadotrophic hypogonadism. Many children with major chromosomal abnormalities are short, but this case emphasises the need to consider growth hormone deficiency in addition.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1988 PMID： 3178273 PMCID： PMC1779112 DOI： 10.1136/adc.63.9.1090

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

3 in total

1. Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

Authors: J Leisti; S Leisti; J Perheentupa; E Savilahti; P Aula
Journal: Arch Dis Child Date: 1973-04 Impact factor: 3.791

2. Ring chromosome 18 in mother and daughter.

Authors: K R Christensen; U Friedrich; P Jacobsen; K Jensen; J Nielsen; T Tsuboi
Journal: J Ment Defic Res Date: 1970-03

3. [Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].

Authors: L Buffoni; A Tarateta; G Aicardi; M G Vianello; E Bonioli
Journal: Minerva Pediatr Date: 1976-04-07 Impact factor: 1.312

3 in total

8 in total

Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.

1. Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

2. Ring chromosome 18 in mother and daughter.

3. [Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].

1. Growth hormone deficiency in children with chromosomal abnormalities.

Review 2. Molecular analysis of the 18q- syndrome--and correlation with phenotype.

3. Interstitial deletions are not the main mechanism leading to 18q deletions.

4. Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.

5. 18p- syndrome and hypopituitarism.

6. Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.

7. Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.

8. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.