Down's syndrome


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Down's syndrome

(dounz)
n.
Variant of Down syndrome.

Down's syndrome

A major genetic disorder caused by the presence of an extra chromosome 21 (trisomy 21). People with Down's syndrome have oval, down-sloping eyelid openings, a large, protruding tongue and small ears. There is always some degree of learning difficulty, but this need not be severe and many people with Down's syndrome are able to engage in simple employment. Antenatal screening for Down's syndrome has been improved since the end of the 20th century. A quadruple-test screening algorithm for all pregnant women, that includes maternal serum alphafetoprotein, human chorionic gonadotropin, unconjugated oestriol (estriol) and inhibin A is now in use to determine whether pregnant women need be offered AMNIOCENTESIS or CHORIONIC VILLUS SAMPLING. Other factors such as maternal age and ultrasound identification of fetal abnormalities are also important. Full karyotyping after a positive screen test has recently been replaced by the rapid diagnostic procedures of fluorescence-in-situ hybridization (FISH) or PCR. (John Langdon Haydon Down, 1828–96, English physician).
References in periodicals archive ?
The plan to form the branch comes after Parent Inclusion Network (PIN) organised a lunch involving people with Down's Syndrome and their families in the autumn, with DSS family support service manager Jo Hughes also playing a big part.
For people with Down's syndrome, it means that treatable conditions like keratoconus are inevitably going to be missed," she highlighted.
Her first-born child, Hollie, was diagnosed with Down's syndrome when she was 10 days old.
Software developer Tim and his wife Hannah contacted the South East Wales Down's Syndrome Support Group, a Cardiff-based charity, who provided them with a local network of both social and professional support.
Suzie Hachez, one of the attendees and director of the Achievement Centre at Cambridge School, said that more schools need to accept children with special needs, including those with Down's syndrome.
The cheque which was presented to Down's Syndrome Liverpool Splashing about at Childwall and Woolton Children's Centre
12 However some young children with Down's syndrome run abnormally high TSH level which subsequently normalize; therefore high TSH alone does not necessarily predict incipient hypothyroidism, but these individuals should be kept under close surveillance.
As well as wearing blue and yellow, the nursery sold some key-rings to help raise money for the Down's Syndrome Association and made blue and yellow cupcakes.
Abnormal serum IgG subclass pattern in children with Down's syndrome.
Among them are dosage imbalance effects at transcription and proteome levels in the gene expression in Down Syndrome, a neuropsychological perspective on social functioning, whether the dysfunctional gastro-intestinal tract in Down's Syndrome is congenital or acquired, informed choice in prenatal screening, Down's Syndrome and dysphagia, machine learning applied to second-trimester Down's Syndrome screening, the influence of oromotor function and diet consistency on caries experience and growth rate in cerebral palsied individuals, the dental evidence for prenatal and early postnatal growth insults in Down syndrome, and a new look at pathogenesis in Alzheimer's Disease dementia from the perspective of Down's Syndrome.