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Chromosome 10, Monosomy 10p
Abstract
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NORD is very grateful to Christa Lese Martin, PhD and Eli Williams, PhD, Department of Human Genetics, Emory University, for assistance in the preparation of this report.
Synonyms of Chromosome 10, Monosomy 10p
- 10p deletion syndrome (partial)
- chromosome 10, 10p- partial
- chromosome 10, partial deletion (short arm)
Disorder Subdivisions
- No subdivisions found.
General Discussion
Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distinctive malformations of the skull and facial (craniofacial) region; a short neck; and/or structural defects of the heart that are present at birth (congenital heart defects). Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS). DGS is a congenital disorder characterized by underdevelopment or absence of the thymus and parathyroid glands, potentially causing abnormalities of the immune system, deficient production of parathyroid hormone (hypoparathyroidism), a heart defect, and associated findings. In many cases, chromosome 10, monosomy 10p appears to occur spontaneously (de novo) for unknown reasons.
Organizations related to Chromosome 10, Monosomy 10p
(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, hypoparathyroidism, immune abnormalities, congenital heart defects, etc.].)
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