The Molecular Basis of Severe Hemophilia B in a Girl

P. Nisen, J. Stamberg, R. Ehrenpreis, S. Velasco, A. Shende, J. Engelberg, G. Karayalcin, L. Waber

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

Severe phenotypic expression of recessive X-linked disorders in females is rare, although examples have been reported. Cases have been documented in females who were homozygous for a recessive allele1 and in female patients with Turner's syndrome2 or a structural abnormality of the X chromosome.3 4 5 In females with apparently normal X chromosomes, “extreme lyonization” (that is, deviation from random X-chromosome inactivation) has been postulated to be the cause of severe clinical expression of X-linked recessive disorders.6,7 Nonrandom inactivation has been documented in females with structural X-chromosome abnormalities such as deletions8,9; inactivation of the abnormal X chromosome tends to minimize the.

Original languageEnglish (US)
Pages (from-to)1139-1142
Number of pages4
JournalNew England Journal of Medicine
Volume315
Issue number18
DOIs
StatePublished - Oct 30 1986

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'The Molecular Basis of Severe Hemophilia B in a Girl'. Together they form a unique fingerprint.

Cite this