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Down Syndrome - Ultrasonography
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Definition of 'Down Syndrome'

A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

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Monday, November 23, 2009

First trimester measurements of nasal bone length using three-dimensional ultrasound.

30 Jul 2009 OBJECTIVES: To investigate the feasibility and reproducibility of measurements of nasal bone length using a three-dimensional (3D) ultrasound in the first trimester. METHODS: In a prospective study, 118 consecutive pregnant women attending for Down ... Read more...


Women's choice for Down's screening--a comparative experience in three district general hospitals.

15 Jun 2009 OBJECTIVES: To look at women's knowledge and understanding of Down's syndrome screening at our hospital and compare the uptake of screening with two other local hospitals in the same trust. STUDY DESIGN: All women attending for their anomaly scan at ... Read more...


The impact of fetal gender on first trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A MoM in normal and trisomy 21 pregnancies.

30 May 2009 OBJECTIVE: To investigate if fetal sex has an impact on 1st trimester combined screening for aenuploidy. METHODS: We studied the first trimester PAPP-A, free beta-human chorionic gonadatropin (beta-hCG) and nuchal translucency levels in 56,024 ... Read more...

 

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Technical information about 'Down Syndrome'

Definition: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Descriptor UI: D004314

Alternative terms: Down Syndrome; Syndrome, Down; Mongolism; Trisomy 21; Down's Syndrome; Downs Syndrome; Syndrome, Down's; Trisomy 21, Meiotic Nondisjunction; Trisomy 21, Mitotic Nondisjunction; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643.220; C16.131.077.327; C16.131.260.260; C16.320.180.260;

Online Note: use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74

History Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

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