Gene: [21q223/DCR] Down syndrome chromosome region; [DSCR ]
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COM |
An area of approximately 5 Mb between loci D21S58 and D21S42 has been identified that is associated with mental retardation and most of the facial features of the syndrome. In particular, a subregion that includes D21S55 and MX1 (interferon-induced protein p78; 21q223/IFNIMX1), the latter being located in Chr 21q22.3, has been associated with mental retardation and several morphologic features, including oblique eye fissure, epicanthus, flat nasal bridge, protruding tongue, short broad hands, clinodactyly of the fifth finger, gap between first and second toes, hypotonia, short stature, Brushfield spots, and characteristic dermatoglyphics (Delabar-1993)." |
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PAT |
[1] Down syndrome (caused by trisomy 21; Lejeune-1959), one of the most
common chromosomal abnormalities in liveborn children, causes Down
syndrome. It is characterized by mental retardation and a distinctive
array of facial and other dysmorphic features. These 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 characteristic
dermatoglyphics (Epstein-1989).
[2] On the heart disease which often coincides with Down syndrome see in GEM:21q223/WRB)." |
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POG |
The frequency of trisomy 21 in the population is 1 in 650-1,000 live births. |
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FAG |
About the candidate gene encoding proline-rich protein see in GEM:21q22/DSCR1. |
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REF |
LOC "Davies A &: J Med Genet, 31, N9, 679-685, 1994 PAT,LOC,LIN,ABR "Delabar JM &: Eur J Hum Genet, 1, 114-124, 1993 PAT,ABR,LIN "Korenberg JR &: PNAS, 91, 4997-5001, 1994 LOC,LIN "Korenberg JR &: AJHG, 50, 294-302, 1992 PAT,ABR "Lejeune J &: CR Acad Sci Paris, 248, 1721-1722, 1959 |
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KEY |
neu, bone, devd |
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CLA |
unknown, basic |
|
LOC |
21 q22.3 |
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MIM |
MIM: 190685 |
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SYN |
DSCR |
