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Monosomy 14

Genetic disorder

Field	Value
name	Monosomy 14
specialty	Medical genetics
symptoms	Intellectual disability, coloboma, stunted growth, microcephaly, neural tube defects, heart defects
onset_always	Prenatal
duration	Lifelong
causes	Nondisjunction
diagnosis	Karyotype
prognosis	Incompatible with life
types	Full, mosiac

Monosomy, with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. Only mosaic cases typically survive and these usually present with severe symptoms such as intellectual disability, ocular colobomata, microcephaly, and seizures. Organ malformations are also associated due to the chromosome 14 having several genes for organ development, including heart defects, and brain problems. In full monosomy 14 in all cells, the total number of chromosomes is 45 instead of 46. Many are stillborn if the pregnancy does progress to term. The prognosis is generally poor even in mosaic form and the symptoms include intellectual disability, small head, ocular problems, seizures, and heart malformations. They may have kidney issues, ventricular underdevelopment, or brain defects. Their eyes, heart, brain, and head are far less developed than fetuses with two copies of chromosome 14. The severe gene dosage imbalance is common in these fetuses. Some signs include

Intellectual disabilities
Coloboma
Stunted growth
Microcephaly with ocular problems
Neural tube defects
Heart defect

References

(1998). "Principles of medical genetics". Williams & Wilkins.
(July 2004). "Mosaic monosomy 14: clinical features and recognizable facies". Clin. Dysmorphol..
(September 1989). "Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation". Clin. Genet..

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autosomal-monosomies-and-deletions

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