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Chromosome 11, Partial Trisomy 11q

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 11, Partial Trisomy 11q

  • 11q Partial Trisomy
  • Chromosome 11, Partial Trisomy 11q13-qter
  • Chromosome 11, Partial Trisomy 11q21-qter
  • Chromosome 11, Partial Trisomy 11q23-qter
  • Distal Trisomy 11q
  • Partial Trisomy 11q
  • Trisomy 11q, Partial

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 11, Partial Trisomy 11q is a rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 11th chromosome appears three times (trisomy) rather than twice in cells of the body. Although associated symptoms and findings may vary, the disorder is often associated with delayed growth before and after birth (prenatal and postnatal growth retardation); varying degrees of mental retardation; distinctive abnormalities of the skull and facial (craniofacial) region; and/or other features. Chromosomal analysis is necessary for a definite diagnosis.

Chromosome 11, Partial Trisomy 11q 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:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

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