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Chapter 21 - Congenital and Genetic Disorders

Hannah Lehrer MSN, RN
Across
X-linked _______ disorders include color blindness, Duchenne muscular dystrophy, and hemophilia A.
Actual genetic information carried by the individual.
An alteration in genetic material.
_________ syndrome occurs when there is an extra X chromosome (XXY). The patients are male, infertile, and have small testes.
Extraction of amniotic fluid from the uterus and extraction of a sample of the chorionic villus from the fetus to examine a sample of fetal tissue.
Refers to laboratory practices of manipulating genes in living organisms, including microorganisms in plants, animals, and humans.
Expression of genes.
Where genetic information for each cell is stored.
________ syndrome occurs when the X chromosome is the only chromosome present (XO). These patients are female, of short stature, and are infertile.
Down
________ anomalies refer to disorders present at birth.
______ syndrome patients have characteristics that include: small head, flat facial profile, large protruding tongue, small hands with a single palmar crease, hypotonic muscles, short stature, delayed developmental stages, delayed or incomplete sexual development, and the possibility or visual, digestive, hearing, heart, immune, and neurological defects.
__________ disorders involve genetic influences and environmental factors.
_________ agents cause damage during embryonic or fetal development.
Visual representation of chromosomes arranged in order of size, used to diagnose chromosomal disorders.
______ ________ is present when there is an extra chromosome in the 21st position (trisomy 21).
_-_______ dominant disorders include fragile X syndrome.
Autosomal __________ disorders include: cystic fibrosis, phenylketonuria, sickle cell anemia, and Tay-Sachs disease.
Caused by multiple genes.