Hint | Answer |
Qualitative defect in collagen synthesis; point mutation; PPW dx after childhood, variable sclera; Mild (but not mildest) of the 4 types | |
Collagen: Pro alpha 1 chain is coded for on which chromosome? | |
Crouzon, Apert, Pfeiffer, Jackson-Weiss syndrome are all examples of craniosynostoses (early closure of sutures); They have an AD mutation in: | |
Short girl with broad neck; NOT a/w AMA, 100% paternal non-disjx; lymphatic problems, coarctation of aorta, horseshoe kidneys, hypothyroidism, streak gonads | |
MCC of dementia; A/w dosage increase of amyloid, which is coded on chromosome 21. 25% of cases are familial; Early-onset familial is linked to PS1, PS2, and APP. | |
Deletions at 22q11.2--> weak or cleft palate, long face w/ prominent nose, cardiac abnormalities (TOF, TA) | |
Teratogen- Causes agenesis of limbs; used as anti-multiple myeloma, unknown mechanism | |
This phase II enzyme normally degrades INH and hydralazine via acetylation; Slow = INH toxicity or drug-induced lupus (hydralazine) | |
CYP2D6 metabolizes many drugs, and converts codeine into stronger form morphine. T/F? | |
Tall, eunuchoid stature, gynecomastia, dec IQ; 50/50 maternal/paternal nondisjx | |
Dosage sensitive sex reversal on chromosome Xp (duplication = M to F sex reversal) | |
AR mutations in HEXA gene; Lipid storage disease, accumulation of GM2; Infantile progressive neurodegeneration, becomes floppy; Cherry red spot; No HSM | |
AD triplet repeat mutation of DMPK gene (19) causes altered RNA function, multisystem disorders; Classic- myotonia, cardiac conduction defects, DM, cataracts; Congenital- floppy ba | |
F patient p/w primary amenorrhea, testes present, Mullerian structures absent, 46 XY; XLR | |
X-linked triplet repeat mutation of FMR1 causes hypermethylation and inactivation of FMR1 promoter (LOF); MCC of inherited form of mental retardation | |
X-linked mutation that leads to abnormal quality or quantity of dystrophin; Milder course than duchenne; Dilated cardiomyopathy causes 50% of deaths | |
Genetically heterogeneous causes of myelin OR axon abnormalities. MC is PMP22 (17) microdeletion (NAHR b/t LCRs in meiosis)-> demyelination and atrophy, loss of DTRs; MCC of geneti | |
Trisomy- Seizures, holoprosencephaly, malformed eyes, iris coloboma, cleft lip, ASD, VSD; | |
AD mutation of type V collagen; PPW hyperextensible skin and joints; can have history of premature birth 2/2 PROM | |
Prenatal and postnatal growth deficiency; F>M; Triangular face, clenched hands, rocker bottom feet; VSD, ASD, hypertonia, seizures; Life expectancy | |
MCC of ambiguous genitalia; 21-Hydroxylase deficiency (CYP21 gene); AR, test for 17-hydroxyprogesterone levels | |
AD mutation in several genes (PTPN11 50%, SOS1, RAF1, KRAS, NRAS, BRAF); PPW pulmonary valve stenosis, dysmorphic features (inverted triangular face, curly hair, webbed neck) + dev | |
Teratogen- Causes hypotension, renal tubular dysplasia--> oligohydramnios, skull ossification defects; used as anti-HTN | |
X-linked enzyme deficiency leading to inability to regenerate NADPH: hemolysis after taking oxidant drugs (black american males) or fava beans (white mediterranean males) | |
AD mutation of fibrillin gene (variable expressivity), or 30% de novo mutations; PPW CV defects (aortic dilation, dissection), tall stature (long arms, fingers), dural ectasia, and | |
Presence of 9p21 variant is a/w increased or decreased risk of CAD? | |
22q11.2 deletion: defect of development in 3rd and 4th pharyneal pouches and 4th branchial arch. Thymus and parathyroid hypoplasia; heart defects (TOF, TA), infx's, seizures, ADD | |
Squashed face, prognathism, MR, seizures, inappropriate laughter; 70% maternal 15q microdeletion; 5% paternal UPD of 15q; 5% imprinting center mutation; 10% UBE3A mutation | |
MCC of SCD in atheletes; 1/500 persons, 2/2 multiple genes that encode sarcomeric proteins of the contractile unit of cardiac muscle | |
AR mutation of PKHD1 (fibrocystin/polyductin) (abbrev) | |
Congenital infection--> intracranial calcifications, microcephaly | |
AD: hearing loss + branchial cleft, preauricular pits, and unilateral renal agenesis | |
X-linked mutation that leads to complete absence of dystrophin expression; Progressive proximal symmetric muscle weakness in children and mild intellectual disability | |
CYP3A4 encodes enzymes that metabolize 40% of all drugs. T/F? | |
Qualitative defect in collagen synthesis; point mutation; PPW short stature, recurrent painful fractures, respiratory insufficiency; Severe (but not most severe) of the 4 types | |
AR mutation of SMN1 results in loss of function of neuronal apoptosis inhibitor protein--> degeneration of anterior horn MNs; Muscle bx: group hypertrophy and atrophy | |
This phase II enzyme normally degrades 6-MP via methylation; Slow = inc toxicity | |
MCC mental retardation; Hypotonia, ALL, AML, Hirschprung, duodenal atresia, Alzheimer's; MC 2/2 non-disjunction, but can be Robertsonian translocation; Life expectancy | |
Macroglossia and normal intel; Gene at 11p15.5 is paternally expressed, maternally imprinted. Maternal mutation (de-inactivated), paternal duplication, or UPD is the cause | |
Quantitative defect in collagen synthesis; null allele of alpha 1 chain; PPW blue sclera, hearing loss, cardiac defects, and fractures; Mildest of the 4 types | |
Teratogen- Causes skeletal and cartilage anomaly (early exposure) or neonatal hemorrhage (late exposure); used as an anti-coagulant | |
Most impt gene for male development | |
Congenital infection--> limb hypoplasia | |
Drug used to treat osteogenesis imperfecta; Side effect- osteonecrosis of the jaw | |
| Hint | Answer |
Teratogen- Causes CNS anomalies, craniofacial defects, and cardiac defects; used to treat acne | |
Collagen: Pro alpha 2 chain is coded for on which chromosome? | |
Maternal condition--> microcephaly, MR, cardiac defects 2/2 metabolic abnormality in mother and build up of a substrate; | |
AR mutation of Phe hydroxylase; developmental delay, MR, growth retardation, seizures, musty body odor, fair skin, eczema; Treatment is dietary (Low Phe for life, LNAA, Sapropterin | |
AR: hearing loss + thyroid nodule | |
Gain of function mutation of FGFR3 (TM domain) that inhibits chondrocyte proliferation; 100% penetrance (AD or 80% de novo, a/w APA); PPW short stature, rhizomelia, trident hands | |
Microdeletion 7q11.23; elastinopathy--> arterial problems; overfriendly, dissociation b/t drawing and language; Hypercalcemia | |
Screen all children with AR non-syndromic hearing loss for this gene: | |
Teratogen- Causes facial features (wide set eyes, anterior fontanelle, hypotelorism) and hypoplastic fingernails; used as an anti-seizure drug | |
AR: hearing loss + retinitis pigmentosa | |
AR: hearing loss + long QT (SCD) | |
AD; MC inherited form of long QT; NOT a/w hearing loss | |
Does NOT detect point mutations, triplet repeat expansions, methylation abnormalities, balanced rearrangements | |
PPW ambiguous genitalia, testes present, 46 XY; defect in receptor | |
Maternal condition--> fetal macrosomia and polycythemia, neural tube defects, holoprosencephaly, or sacral agenesis | |
Primordial germ cells migrate to gonadal ridge at __ weeks | |
AD: hearing loss + eye and skin abnormalities | |
Congenital infection--> cardiac defects, cataracts | |
Congenital infection--> retinitis | |
AD triplet repeat on chr 4 w/ anticipation, age-dependent, and triplet-repeat dependent penetrance. GOF. Regression of caudate-> chorea, athetosis, dementia | |
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes | |
X-linked triplet repeat premutation of FMR1; causes late onset tremor and ataxia in male or female carrier. ALTERED RNA FUNCTION | |
PPW multiple congenital anomalies; Defect in 7-dehydrocholesterol reductase (biochemical diagnosis); 2,3 toe syndactyly, upturned nose; AR | |
Drug that is metabolized by CYP2C9 in liver (P-kinetics) and inhibits VKORC1 (P-dynamics) to achieve anticoagulation | |
Aberrant methylation of MeCP2 leads to dysregulation of other genes in neurons (epigenetics); Causes repetitive hand wringing movements + acquired microcephaly in girls | |
XLR mutation of ornithine transcarbamoylase (OTC) gene; Affects young boys or older girls, with urea toxicity symptoms + resp alkalosis; Dx: High NH3, glutamine and low citrulline | |
AD mutation of PKD1 or PKD2 (abbrev) | |
PPW ambiguous genitalia, testes present, 46 XY; Virilization at puberty; defect in enzyme | |
Differentiation of ovary vs. testis at __ weeks | |
AD mutation of this gene encoding Ca channel on SR leads to malignant hyperthermia after using inhaled anesthetics (halothane) or depolarizing NMJ blockers (succinylcholine) | |
X-linked mutation that leads to abnormal dystrophin in cardiac muscle, with no skeletal muscle involvement | |
Teratogen- Causes growth retardation, facial and nail defects, CNS defects, and cardiac defects (ASD, VSD); Symptoms depend on timing of exposure | |
Child w/ hypotonia and poor feeding; Adult with obesity + OCD; 70% 2/2 paternal 15q microdeletion; 25% 2/2 maternal uniparental disomy of 15q; 5% imprinting center mutation | |
AD mutation of type III collagen; PPW translucent skin, normal joints; risk of rupture of aorta, distal colon, or uterus; Short lifespan | |
Gain of function mutation of FGFR3 (Ig or TK domain); Lethal | |
X-linked triplet repeat premutation of FMR1; causes early cessation of menses in female carrier. ALTERED RNA FUNCTION | |
Mutations in C282Y or H63D are common in hereditary form of: | |
This phase II enzyme normally degrades irinotecan via glucuronidation; Slower = more toxicity | |
Qualitative defect in collagen synthesis; point mutation; PPW soft calvarium, beaded ribs, bowed legs, fatal in-utero fractures; most severe of the 4 types | |
AR def of glucocerebrosidase, (degrades a complex lipid in lysosomes); HSM, aseptic necrosis of femur, BM shows lipid-laden MPs; Type I (mild), Type II (infant, lethal), Type III ( | |
This enzyme normally degrades ACh (or succinylcholine used for surgical muscle relaxation); Lower activity = longer paralysis post-op | |
Opposite of Williams; Autistic behavior | |
High-pitched mewing, minor facial abnormalities, MR | |
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