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CriDuChat; Gene/Chrom; Mutation; Inheritance; Symptoms; Prognosis
5p15 causes loss of catenin which prevents cell adhesion. Deletion. Dominant (haploinsufficiency). Cat-like cry, mental retardation, small head. Usually do not survive to adulthood.
Wolf-Hirschhorn; Gene/Chrom; Mutation; Symptoms; Other
4p16( 18p, 18q, 13q). Deletion(75% de novo). Craniofacial features with "greek warrior helmet", microcephaly, high forehead, prominent glabella, seizures, skeletal anomalies, hearing loss, congenital heart defect. Can have ring of chromosome 4
DiGeorge Syndrome; Gene/Chrom; Mutation; Symptoms; Method to detect
22q11; Microdeletion; Cleft palate, heart murmur, small mouth, narrow eyes, upward slant of eyes, learning difficulty, immune deficiency. Use metaphase FISH to detect
Williams-Beuren Syndrome; Gene/Chrom; Mutation; Symptoms; Other
7q11.23 (loss of elastin component of microfibrils). Microdeletion. Heart problem, learning difficulty, small size. Drawings can recognize details but can't put together correctly
Sickle Cell Anemia; Gene/Chrom; Mutation; Symptoms; Other; Method to detect
11p15.5 (HBB gene). Single missense mutation. Unequal finger length. Can be a founder mutation, hetero provides protection against malaria. Dot blot hybridization to detect
Hemophilia; Gene/Chrom; Mutation; Inheritance; Symptoms; Method to detect
Xq28 (F8 gene Factor VIII). Inversion. X-linked. Bleeding around arm, retina, joints causing arthritis. Use southern blot analysis
Duchenne Muscular Dystrophy; Gene/Chrom; Mutation; Other; Method to detect
Many involving dystrophin. Deletion. Largest gene found in nature 2.4 Mb. PCR to detect
Huntington Disease; Gene/Chrom; Mutation; Inheritance; Method to detect
HTT gene on 4p16 exon1; CAG repeat (over 37 is pathalogical); AD; PCR
Fragile X Syndrome; Gene/Chrom; Mutation; Inheritance; Symptoms; Other
FMR1 gene (RNA binding protein which is involved in translation or mRNA trafificking). CCG in 5'UTR (A type) or CGG in promoter (E type). Complete LOF with male having mental retardation and affected females with less severe phenotype. First disease of nucleotide repeats with Fragile X not staining well
AD. Hypotonia (low muscle tone), skeletal, smooth, eye, heart, CNS affected, blue dot cataract. Anticipation pattern of offspring having worse affects. 19q13 with CTG repeats in 3' UTR (DM1) or in Intron 1 (DM2)
Absence of beta globin in adult (child born with fetal hemoglobin). Failure to thrive, pale, splenomegaly, hypochromatic blood film, red cells with multiple nuclei, hairy skull, liver biopsy with iron over load.
Long QT syndrome
Romano-Ward type dominant, Jervell and Lange Nielson type recessive. syncope and deaf child. Normal QT segment is <390 msec so prolonged >490 msec. Most die of heart attack
X-linked Androgen Insensitivity
X-linked CAG repeat. (Xq11-q12). Testes develop but cannot react to androgen so proceed as female with external gentialia, breasts, infertile, no pubic hair. Treatment removes testes
partial loss of SRD5A2 causes male pseuodo hermaphroditism (normaly encodes 5Alpha reductase). Micropenis and gynecomastia. Not as serious as androgen insensitivity
Spinal and bulbar muscular dystrophy
X-linked CAG repeat (38-62). aDULTS ONSET muscular atrophy, genecomastia or other mild androgen deficiency
failure to thrive, herpes simplex, immunodeficiency. X-linked
Microdeletion in maternal chrom 15 from q11-q13). UBE3 gene gone is no ubiquitin protein ligase so harmful stuff accumilates. Happy, smiling laughing, unstable gait, mental retard, mircocephay, seizures
Microdeletion in paternal 15 q11-q13. Hypotonia, hypogonad, short status, non insulin dependant diabetes, obese, cognitive impairment, infertile. Test with FISH test
AR (LOF). No phenylaalanine hydroxylase. Phe transport and disposal affected, blood brain barrier compromised.
AR. Mutation in sulfate transporter. BOne and cartilage formation causes 4 disease. 1. Multiple epiphyseal dysplasia 2. Diastrophic dysplasia 3. Atelosteogenesis type II 4. Achondrogenesis type Ib
AR. 21 hydroxylase deficiency of P 450 family. Female pseudohermaphroditism and affected males only have excess growth. Treat with glucocorticoid in children to raise cortisol and aldosterone and prednisone and dexamethasone in adults. also Fludrocortisone for missing aldosterone.
Nonclassical CAH 21 i hydroxylase deficiency
AR. Partial enzyme deficiency of above. Premature pubic hair, irregular menses, milder not threatening CAH forms later in life. Treat with low dose glucocorticoids
Acute Lymphocytic Leukemia
Pale bruising, tachycardia, low Hb, large number of blastocytes cells. Treat with chemotherapy
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