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Chromosome 9, Partial Monosomy 9p

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 9, Partial Monosomy 9p

  • 9p Partial Monosomy
  • 9p- Syndrome, Partial
  • Chromosome 9, Partial Monosomy 9p22
  • Chromosome 9, Partial Monosomy 9p22-pter
  • Del(9p) Syndrome, Partial
  • Deletion 9p Syndrome, Partial
  • Distal 9p- Syndrome
  • Distal Monosomy 9p
  • Monosomy 9p, Partial
  • Partial Deletion of Short Arm of Chromosome 9

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).

Chromosome 9, Partial Monosomy 9p Resources

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

NORD Member Organizations:

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