Chromosome 3, Monosomy 3p
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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 3, Monosomy 3p
- Chromosome 3, Deletion of Distal 3p
- Chromosome 3, Distal 3p Monosomy
- Monosomy 3p
- No subdivisions found.
Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (craniofacial) region; eyebrows that grow together (synophrys); and/or excessive hair growth (hypertrichosis). Additional physical abnormalities may also be present. In many cases, Chromosome 3, Monosomy 3p appears to occur spontaneously (de novo) for unknown reasons.
Chromosome 3, Monosomy 3p 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, hearing impairment, etc.].)
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