deletion syndrome

deletion syndrome

any of a group of congenital autosomal anomalies that result from the loss of part of a chromosome as a result of breakage of a chromatid during meiosis. An example is cat-cry syndrome, which results from the absence of the short arm of chromosome 5.

deletion syndrome

Clinical genetics Any of number of hereditary conditions caused by a major loss of chromosome segments; all are rare, often have microcephaly, and an IQ < 50
References in periodicals archive ?
com)-- Emmalee Campbell was born with a relatively unknown genetic disorder, 1p36 Deletion Syndrome.
2 deletion syndrome was previously known by a number of clinical names such as DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome and Cayler cardiofacial syndrome before the underlying chromosomal cause was identified.
Current tests include Down syndrome, trisomy 13 and 18, Klinefelter and Turner syndromes, 22q deletion syndrome, and more.
Early diagnosis and treatment are crucial to improving patient prognosis for 22q11 deletion syndrome and Wilson disease, two potentially life-threatening genetic conditions.
Rio, 11, has severe special needs due to a chromosome abnormality referred to as 1q44 deletion syndrome.
But the Dubliner hasn't let the 22Q Deletion Syndrome stand in the way of her successes.
Evie-Anne Peel has 1p36 deletion syndrome - which means she has epilepsy, cannot walk, talk or eat by mouth and will need round-the-clock-care for the rest of her short life.
2 deletion syndrome, a genetic disease which has long been studied at The Children's Hospital of Philadelphia.
Once called 22q13 deletion syndrome, Phelan McDermid Syndrome sterns from a disruption in the 22nd chromosome, which is involved in brain function and development.
21 deletion syndrome and was likely to suffer learning difficulties and delays in his physical development.
Katharine, 35, and David, 37, a civil servant, will never forget the shock at discovering their little girl has a genetic condition called 22q Deletion Syndrome.