A Comprehensive Review of Chromosome 7, Partial Monosomy 7p Syndrome

Abstract

Partial monosomy syndrome of chromosome 7p is a rare chromosomal disorder characterized by the deletion (monosomy) of part of the short arm (p) of chromosome number 7 (7p). Associated symptoms and findings may be variable and may depend on the size and specific location of the 7p deleted segment. However, in many cases, there is premature closure of the fibrous joints (cranial sutures) between some of the bones of the skull (craniosynostosis), leading to an abnormal head shape. For example, depending on the specific sutures involved, the forehead may appear unusually “triangular” (trigonocephaly) or the head may appear abnormally long and narrow with a pointed or conical point (toriscephaly). Partial monosomy syndrome of chromosome 7p is also usually characterized by premature closure of one or more fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis), potentially leading to a deformed skull and abnormal head shape. In people with partial monosomy syndrome of chromosome 7p, there is a deletion (monosomy) of part of the short arm (p) of chromosome number 7. Based on reports in the medical literature, there is considerable variability in the size and location of the 7p deleted segment, potentially affecting the range and severity of symptoms and associated findings. Reported cases include variable “distal” deletions that extend to the terminal band (eg, from 7p13-pter to 7p21,p22-pter) and various “interstitial” deletions (eg, from 7p13 or 7p15 to 7p21).