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Chromosome 13, Partial Monosomy 13q

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 13, Partial Monosomy 13q

  • 13q- Syndrome, Partial
  • Deletion 13q Syndrome, Partial
  • Monosomy 13q, Partial
  • Partial Monosomy of the Long Arm of Chromosome 13

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 13, Partial Monosomy 13q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 13 is missing (deleted or monosomic). The range and severity of symptoms may vary greatly, depending upon the exact size and location of the deletion on 13q. Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities. Affected infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as varying degrees of mental retardation. In the majority of cases, Chromosome 13, Partial Monosomy 13q appears to occur randomly, for no apparent reason (sporadic).

Chromosome 13, Partial Monosomy 13q 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, retinoblastoma, congenital heart defects, Hirschsprung's disease.].)

NORD Member Organizations:

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Other Organizations:

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