Term
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Definition
| parental phenotypes do not blend in offspring |
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Term
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Definition
| two members of a gene pair (alleles) are never found in the same gamete |
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Term
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Definition
| random recombination of maternal and paternal chromosomes in gametes |
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Term
| characteristic banding patterns in karyotype created by (2) |
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Definition
| trypsin (a protease) and Giemsa (a chemical that stains DNA) |
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Term
| short arm / long arm letters |
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Definition
| p - petit, q - long (follows p in alphabet) |
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Term
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Definition
| inactive second X chromosome |
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Term
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Definition
| gene for color is on X chromosome. in every cell, one X is inactivated. |
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Term
| could a tortoiseshell cat be male? |
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Definition
| yup - 47XXY, klinefelter's syndrome |
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Term
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Definition
| mitotic non-disjunction. trisomy and monosomy instead of normal disomy. |
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Term
| mitotic non-disjunction occurs when |
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Definition
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Term
| meiotic non-disjunction occurs where |
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Definition
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Term
| t/f mosaicism often occurs in all parts of the body if it occurs at all |
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Definition
| f - usually only one part, like skin or blood |
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Term
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Definition
| 45XO. only occurs in females. occurs via meiotic non-disjunction. sometimes there are two X chromosomes, but one is incomplete. webbed neck, short, narrowing (coarctation) of aorta, renal and skeletal abnormalities, infertility. prognosis is better when there's more of a second X present. |
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Term
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Definition
| X chromosome missing in some cells but not in others. occurs via mitotic non-disjunction. |
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Term
| _% 45X babies abort spontaneously |
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Definition
| over 99%; causes 20% of all first trimester miscarriages. |
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Term
| how many live births = turner's |
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Definition
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Term
| newborn turner presentation |
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Definition
| webbed neck, weird face, lymphedema (puffy hands and feet) = 1/3 diagnosed then |
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Term
| childhood turner presentation |
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Definition
| short w/ webbed neck (1/3 diagnosed then) |
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Term
| adolescent turner presentation |
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Definition
| no menarche, lack of secondary sex characteristics (1/3 diagnosed then) |
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Term
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Definition
| = turner's ovaries = fibrosed |
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Term
| majority of errors occur maternally/paternally in turner's syndrome |
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Definition
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Term
| turner's syndrome treatment (4) |
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Definition
| growth hormone, replace estrogen in 13-14y.o. girls for bone and heart health (but not sooner), counsel regarding probable infertility, echocardiograms every 5 years w/ normal heart and every year with abnormal heart |
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Term
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Definition
| 6% of turners patients. must have testicular tissue removed because of cancer risk |
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Term
| examples of meiotic non-disjunction |
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Definition
| klinefelter's, trisomy 21, 18, 13 |
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Term
| how many gametes are normal in meiotic non-disjunction? |
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Definition
| none in meiosis I, 2 in meiosis ii |
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Term
| paternal or maternal error in klinefelter's? |
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Definition
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Term
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Definition
| small testes, gynecomastia (some breast tissue), high FSH LH and estradiol but low testosterone, infertility without testosterone replacement, no secondary sex characteristics, immaturity |
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Term
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Definition
| test. replacement, assisted reproduction, programs for help with expressive language. (wide range of intelligence and function) |
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Term
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Definition
| brachycephaly (flat head), high eyebrows, flat nasal bridge, low-set ears, hypotonic (floppy), small, (simian crease in 50%), sandle gap. impaired cognitive ability, developmental delays, congenital heart defects (usually endocardial cushion defects), 10% duodenal atresia (obstruction, lack of duodenal lumen = double bubble) |
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Term
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Definition
| trisomy 18, most often due to errors in meiosis ii. male:female = 1:4, but females have better survival rates. 90% die in first year, 50% die in first three months. prominent occiput, hairy (hirsute) forehead, low-set funny ears, can't open and close hands, short sternum, cardiac defects: ASD VSD or patent ductus arteriosus |
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Term
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Definition
| treat congenital heart disease medically; surgery unlikely to improve outcome |
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Term
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Definition
| trisomy 13. 15% robertsonian translocation, 5% mosaicism. polydactyly, low set abnormal ears, midline defects, scalp/skull don't close (cutis aplasia). same amounts in males and females. 90% die in first year, 50% die in first three months. |
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Term
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Definition
| severe retardation: family support, comfort measures, cousel about recurrence risk, continuity of care if baby is discharged home. surgery only to make definitive diagnosis. note feeding difficulties, seizures. |
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Term
| recurrence risk differs if |
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Definition
| mother vs. father is a carrier of a robertsonian translocation |
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Term
| female w/ trisomy 18 denotation: |
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Definition
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Term
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Definition
| green top karyotype test, EKG + check newborn screen for hypothyroidism + abdominal xray |
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Term
| when is heart defect in down syndrome caused? |
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Definition
| before fertilization (maternal anaphase I usually); not preventable. |
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Term
| what is the increase in risk for a mother with a down syndrome baby to have another down syndrome baby? |
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Definition
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