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Related Concept Videos

X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
X-inactivation01:58

X-inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
Karyotyping01:17

Karyotyping

Overview
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...

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A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
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X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.

C T Sullivan1, S L Christian, J T C Shieh

  • 1Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle Children's Research Institute, Seattle, Wash., Calif.

Molecular Syndromology
|May 9, 2013
PubMed
Summary
This summary is machine-generated.

PHACE syndrome, a disorder affecting head and neck hemangiomas, shows no significant X-chromosome inactivation skewing in mothers, suggesting genetic heterogeneity rather than simple X-linked inheritance for most cases.

Keywords:
Coarctation of the aortaHemangiomaPHACE
syndromePosterior fossa anomalyX-inactivation

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • PHACE syndrome involves hemangiomas and congenital anomalies.
  • The genetic basis of PHACE syndrome is unknown.
  • A female predominance suggests potential X-linked inheritance.

Purpose of the Study:

  • To investigate X-chromosome inactivation (XCI) patterns in females with PHACE syndrome and their mothers.
  • To test the hypothesis of X-linked inheritance in PHACE syndrome.
  • To explore if skewed XCI in mothers protects against severe phenotypes in daughters.

Main Methods:

  • Analyzed XCI patterns in 31 females with PHACE syndrome and their mothers.
  • Utilized blood-derived DNA and X-chromosome locus methylation assays.
  • Assessed XCI informativeness in 27 mothers.

Main Results:

  • Skewed XCI was found in 19% of informative mothers (5/27).
  • This finding was not statistically significant (p=0.41).
  • Skewed XCI was present in a minority of mothers.

Conclusions:

  • Results do not strongly support X-linked inheritance for most PHACE syndrome cases.
  • Genetic heterogeneity is likely a significant factor in PHACE syndrome.
  • A subset of cases may still involve mutations in X-linked genes.