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Chromosome 4, Monosomy Distal 4q

Abstract

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NORD is very grateful to Shashikant Kulkarni, PhD, Director of CytoGenomics and Molecular Pathology, Director of Clinical & Molecular Cytogenetics, Department of Pathology, Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Chromosome 4, Monosomy Distal 4q

  • 4q Deletion Syndrome, Partial
  • Chromosome 4, 4q Terminal Deletion Syndrome
  • Chromosome 4, Partial Monosomy 4q
  • Del(4q) Syndrome, Partial
  • Distal 4q Monosomy
  • Distal 4q- Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 4, Monosomy Distal 4q is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 4th chromosome. Associated symptoms and findings may be variable, depending upon the specific length and location of the deleted portion of chromosome 4. However, characteristic features include growth deficiency after birth (postnatal growth retardation), varying degrees of mental retardation, malformations of the skull and facial (craniofacial) region, structural heart defects, abnormalities of the hands and feet, and/or other physical findings. Chromosome 4, Monosomy Distal 4q usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).

Chromosome 4, Monosomy Distal 4q Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial abnormalities, congenital heart defects, mental retardation, etc.].)

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