Down syndrome phenotype and genotype
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Phenotype
Developmental: delayed development, learning disability, short stature, or speech delay in a child
Eyes: lazy eye or spots
Also common: difficulty thinking and understanding, brachycephaly, upslanting palpebral fissures, atlantoaxial instability, bent little finger, congenital heart disease, displacement of the tongue, excess skin on the back of the neck, flaccid muscles, hearing loss, immune deficiency, low-set ears, mouth breathing, obesity, obstructive sleep apnea, polycythemia, seborrheic dermatitis, single line on palm, thickening of the skin of the palms and soles, thyroid disease, or vision disorder
Genotype
DS results from the presence of an extra copy of chromosome 21.
Developmental: delayed development, learning disability, short stature, or speech delay in a child
Eyes: lazy eye or spots
Also common: difficulty thinking and understanding, brachycephaly, upslanting palpebral fissures, atlantoaxial instability, bent little finger, congenital heart disease, displacement of the tongue, excess skin on the back of the neck, flaccid muscles, hearing loss, immune deficiency, low-set ears, mouth breathing, obesity, obstructive sleep apnea, polycythemia, seborrheic dermatitis, single line on palm, thickening of the skin of the palms and soles, thyroid disease, or vision disorder
Genotype
DS results from the presence of an extra copy of chromosome 21.
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