A Comprehensive and Clinical Review of Partial Monosomy 13q Syndrome |Biomedgrid

Partial monosomy 13q syndrome is a rare chromosomal disorder in which part of the long (q) arm of chromosome 13 is missing (deleted or monosomic). The range and severity of symptoms may vary greatly, depending on the exact size and location of the deletion on 13q. Partial monosomy 13q syndrome is usually present at birth and may be associated with low birth weight, abnormalities of the head and face (skull and face), eye abnormalities, hand or foot defects, genital tract abnormalities in affected males, or Additional physical abnormalities should be identified. Many babies with partial monosomy 13q syndrome may have specific abnormalities in the head and face (cranium and face) such as small and unusual head size (microcephaly), wide and flat nasal bridge; lower jaw than normal (micrognathia) with a non-prominent upper jaw (maxilla); Prominent front teeth (incisors), large and low-set ears or a short neck with abnormal skin folds (skin adhesions). Partial monosomy 13q syndrome is a rare chromosomal disorder in which part of the long arm (q) of chromosome 13 is missing (deleted). Chromosomes are found in the nucleus of all cells in the body. They have the genetic characteristics of each person.