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Chromosome 18q- Syndrome

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 18q- Syndrome

  • 18q Deletion Syndrome
  • 18q- Syndrome
  • Chromosome 18 Long Arm Deletion Syndrome
  • Chromosome 18, Monosomy 18Q
  • Del(18q) Syndrome
  • Monosomy 18q Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in range and severity from case to case. However, characteristic features include short stature; mental retardation; poor muscle tone (hypotonia); malformations of the hands and feet; and abnormalities of the skull and facial (craniofacial) region, such as a small head (microcephaly), a "carp-shaped" mouth, deeply set eyes, prominent ears, and/or unusually flat, underdeveloped midfacial regions (midfacial hypoplasia). Some affected individuals may also have visual abnormalities, hearing impairment, genital malformations, structural heart defects, and/or other physical abnormalities. Chromosome 18q- syndrome usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).

Organizations related to Chromosome 18q- Syndrome

(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, ocular defects, hearing impairment, etc.].)

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