Related Experiment Video

Updated: Jul 31, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Myelokathexis in a mother and infant: a second case suggesting dominant inheritance

M J Christ1, C A Dillon

  • 1Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI 96859-5000, USA.

Military Medicine
|January 20, 1998
PubMed

Insights

Myelokathexis, a rare congenital neutropenia, presents with severe infections and bone marrow hyperplasia. This study provides further evidence for its autosomal dominant inheritance pattern, observed in a mother and son.

Area of Science:

  • Hematology
  • Genetics
  • Pediatric Medicine

Background:

  • Myelokathexis is a rare congenital neutropenia characterized by severe noncyclic neutropenia, recurrent infections, granulocytic hyperplasia of the bone marrow, and degenerative changes in mature neutrophils.
  • The exact cause of myelokathexis remains uncertain.
  • Previous reports suggested autosomal-dominant inheritance based on a familial case.

Observation:

  • A 12-month-old male infant presented with chronic neutropenia and the characteristic morphologic features of myelokathexis.
  • The patient's mother was also diagnosed with myelokathexis.
  • This familial occurrence was investigated for genetic transmission patterns.

Findings:

  • The presented case involves a mother and son with myelokathexis.
  • This observation supports the hypothesis of autosomal-dominant transmission of the condition.
  • Morphologic analysis revealed degenerative changes in neutrophils consistent with myelokathexis.

Implications:

  • This case adds to the evidence supporting an autosomal-dominant inheritance for myelokathexis.
  • Understanding the genetic basis is crucial for diagnosis and genetic counseling.
  • Further research into the molecular mechanisms underlying myelokathexis is warranted.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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.
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.