Direct insertion of euchromatic material from chromosome Y in the X- chromosome in hypogonadotropic hypogonadisms with Crohn's disease

K. H. Ramesh, Q. H. Qazi, R. S. Verma

Research output: Contribution to journalArticle

Abstract

The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patient. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.

Original languageEnglish (US)
Pages (from-to)551-556
Number of pages6
JournalThe Japanese Journal of Human Genetics
Volume42
Issue number4
StatePublished - 1997
Externally publishedYes

Fingerprint

Hypogonadism
Y Chromosome
X Chromosome
Crohn Disease
Sex-Determining Region Y Protein
Euchromatin
Recessive Genes
Penetrance
Chromosome Aberrations
Abdominal Pain
Diarrhea
Inflammation

Keywords

  • Chromosomes X and Y
  • Crohn's disease
  • Hypogonadotropic hypogonadism
  • SRY gene

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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abstract = "The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patient. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.",
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AU - Verma, R. S.

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AB - The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patient. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.

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