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Chromosome 8, Monosomy 8p

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 8, Monosomy 8p

  • 8p- Syndrome, Partial
  • Chromosome 8, 8p Deletion Syndrome, Partial
  • Chromosome 8, Partial Deletion of Short Arm
  • Chromosome 8, Partial Monosomy 8p
  • Del(8p) Syndrome, Partial
  • Distal 8p Monosomy
  • Partial 8p Monosomy
  • Terminal 8p- Syndrome (8p21 to 8p23-pter), Included

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons.

Chromosome 8, Monosomy 8p Resources

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

NORD Member Organizations:

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