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    Down Syndrome

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    Areef Muarif
    Down syndrome is caused by trisomy of chromosome 21 and is characterized by distinct physical features and developmental delays. Affected individuals typically have short stature, a flat facial profile, small ears, upslanted eyes, and a single transverse palmar crease. Common medical issues include congenital heart defects, gastrointestinal abnormalities, and Atlantoaxial instability. Down syndrome results from a meiotic error in 95% of cases and has a prevalence of 1 in 650-1000 live births.

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    Down Syndrome

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    Areef Muarif
    18 views2 pages
    Down syndrome is caused by trisomy of chromosome 21 and is characterized by distinct physical features and developmental delays. Affected individuals typically have short stature, a flat facial profile, small ears, upslanted eyes, and a single transverse palmar crease. Common medical issues include congenital heart defects, gastrointestinal abnormalities, and Atlantoaxial instability. Down syndrome results from a meiotic error in 95% of cases and has a prevalence of 1 in 650-1000 live births.

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    Down Syndrome

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    Down syndrome is caused by trisomy of chromosome 21 and is characterized by distinct physical features and developmental delays. Affected individuals typically have short stature, a flat facial profile, small ears, upslanted eyes, and a single transverse palmar crease. Common medical issues include congenital heart defects, gastrointestinal abnormalities, and Atlantoaxial instability. Down syndrome results from a meiotic error in 95% of cases and has a prevalence of 1 in 650-1000 live births.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    18 views2 pages

    Down Syndrome

    Uploaded by

    Areef Muarif
    Down syndrome is caused by trisomy of chromosome 21 and is characterized by distinct physical features and developmental delays. Affected individuals typically have short stature, a flat facial profile, small ears, upslanted eyes, and a single transverse palmar crease. Common medical issues include congenital heart defects, gastrointestinal abnormalities, and Atlantoaxial instability. Down syndrome results from a meiotic error in 95% of cases and has a prevalence of 1 in 650-1000 live births.

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    of 2

    Genetic & Dysmorphic Book ELBABA M.A.

    DOWN SYNDROME OMIM 2008


    ______________________________________________________________________________________________

    DOWN SYNDROME
    Clinical Synopsis
    INHERITANCE :
    Isolated cases
    GROWTH :
    Height
    Short stature
    HEAD AND NECK :
    Head
    Brachycephaly
    Face
    Flat facial profile
    Ears
    Small ears
    Folded helix
    Conductive hearing loss
    Eyes
    Upslanting palpebral fissures
    Epicanthal folds
    Iris Brushfield spots
    Mouth
    Protruding tongue
    CARDIOVASCULAR :
    Heart
    Congenital heart defect
    Atrioventricular canal
    ABDOMEN :
    Gastrointestinal
    Duodenal stenosis/atresia
    Imperforate anus
    Hirschsprung disease
    SKELETAL :
    Spine
    Atlantoaxial instability
    Pelvis
    Hypoplastic iliac wings
    Shallow acetabulum
    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 23 September 2008
    Genetic & Dysmorphic Book ELBABA M.A.
    DOWN SYNDROME OMIM 2008
    ______________________________________________________________________________________________
    Limbs
    Joint laxity
    Hands
    Short, broad hands
    Fifth finger mid-phalanx hypoplasia
    Single transverse palmar crease
    SKIN, NAILS, HAIR :
    Skin
    Excess nuchal skin
    Single transverse palmar crease
    NEUROLOGIC :
    Central nervous system
    Mental retardation
    Alzheimer disease
    Hypotonia, poor Moro reflex
    ENDOCRINE FEATURES :
    Hypothyroidism
    HEMATOLOGY :
    Leukemoid reactions
    NEOPLASIA :
    Leukemia (both ALL and AML)
    Acute megakaryocytic leukemia
    MISCELLANEOUS :
    Meiotic origin >95% maternal, mostly meiosis I
    Increased recurrence risk with parental translocation
    Incidence, 1 in 650-1000 live births

    MOLECULAR BASIS
    Gene map locus Xp11.23, 21q22.3, 1q43
    • Full trisomy 21, 94%
    • Mosaic trisomy 21, 2.4%
    • Translocation 21, 3.3%

    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 23 September 2008

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