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 ?
46 Mb involving 13q32, which is considered the critical band for the most severe phenotypes in 13q deletion syndrome.
2 deletion syndrome is a natural expansion of NIPT.
The tot, now aged 20 months, was born in February last year with a rare chromosome disorder called 1q43q44 deletion syndrome.
2 deletion syndrome, but is always enthusiastic and her favorite activity is cheering; Ellie Kemper (right) will appear at the release party for "An Ordinary Day.
2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a one-year period.
Phenotypic features of our case were overlapping with other reported cases carrying ring chromosome 3 as well as cases of 3p deletion syndrome.
Other chromosomal abnormalities that could be detected with MaternitT21 are Wolf-Hirschhorn syndrome, DiGeorge syndrome, Langer-Giedion syndrome, 1q36 deletion syndrome and Jaconsen syndrome.
Homologous recombination of a flaking repeat gene cluster is a mechanism for a common continuous gene deletion syndrome.
In their paper, the researchers demonstrate that the developmental disabilities suffered by children with RERE mutations correspond almost perfectly to the well-known pattern of intellectual disabilities, heart defects, craniofacial abnormalities, and hearing and vision problems seen in 1p36 deletion syndrome, one of the most common sources of intellectual disability in children.
But because of his conditions, also including severe autism, which stem from a rare genetic chromosome deletion syndrome, Cole still cannot talk and communication is difficult.