Genetics Flashcards
Affected Gene and inheritance pattern for Osteogenesis imperfects type 1-4
COL1A, Autosomal Dominant (type 1), type II is most severe and lethal, features of all include bone fragility, blue sclera, hearing loss, short stature
Affected gene in thanatophoric dysplasia and achondroplasia and inheritance pattern
FGFR3, autosomal dominant, features include narrow thoraces, hypoplastic lungs, cloverleaf skull deformity, usually results in death from respiratory failure.
Affected gene and inheritance pattern of Stickler syndrome
COL2A, autosomal dominant (cleft palate, Pierre robin sequence, sensorineural hearing loss, and cataracts.
Beck with Wiedemann syndrome can be caused by…
Loss of Methylation on maternal chromosome 11 (50%), paternal unilateral disomy (20%), gain of methylation on maternal chromosome 11 (5%).
Syndromes that have port wine stains
Sturge Webber, kipper-Trenauay-Weber, beckwith-wiedemann syndrome, Cobb syndrome
Major criteria for CHARGE
Coloboma, choanal atresia, cranial nerve dysfunction, ear anomaly
Name the disease and inheritance pattern: hypertelerism, mid facial hypoplasia, broad distal phalanxes of thumb and big toe with syndactally of hands and feet, irregular craniosynostosis
Apert, AD, mutation in fibroblast growth factor receptor 2 gene.
Name the disorder and inheritance pattern: maxillary hypoplasia, shallow orbits, premature craniosynostosis, parrot beak nose, mental deficiency less common
Crouzon, AD, mutation in fibroblast growth factor receptor 2 gene
Diseases associated with cleft palate
Digeorge, Meckel-Gruber, Pierre robin, smith-lemi Opitz, and trisomy 13, Charge association, goldenhar, treacher collin
Tuberous Sclerosis (chromosome 9,16), neurofibromatosis, (chromosome 17) and Von Hillel-Linda’s (chromosome 3) are all AD or AR?
AD
Nodules that are typically 1-2 mm, gray-white or yellow, smooth and usually located on the maxillary alveolar ridge
Bohn nodule (Epstein pearls typically located on hard palate)
Malformations of bones as a result of an insult during organogenesis
Dysostoses
Affect gene and inheritance pattern of Jenue Syndrome
IFT80, AR
What is the deletion in the genetic disease characterized by Wilms tumor, aniridia, GU abnormalities, and mental deficiency
WAGR syndrome, 11p13 deletion
What is the genetic disease and deletion characterized by cardiac anomalies, broad thumbs and toes, hirsutism, downward slanting palpebral fissures, hypoplastic maxilla
Rubenstein-Taybi syndrome, 16p13.3 deletion (Ruben has the broad thumb and toes)
What syndrome and what pattern do f inheritance is the following: absent bilateral radii, thumbs present, ulnar abnoramalities, thrombocytopenia
TAR (thrombocytopenia-radial aplasia), autosomal recessive (absent bilateral radiii because got stuck in tar, Reese’s fell in)
Name the genetic disorder and pattern of inheritance: upper limb defects, absent hypoplastic or abnormally shaped thumbs. Cardiac abnormalities common
Holt-Oram Syndrome, AD some associated with 12q2
Name the genetic syndrome and pattern of inheritance: radial hypoplasia, thumb hypoplasia, pancytopenia, hyperpigmentation, short stature
Fanconi Pancytopenia, AR.
Name the syndrome and pattern of inheritance: defect in cholesterol synthesis—> low cholesterol, 2nd and third toe syndactoly, hypogenitelia, hypospadias
Smith-Leno-Opitz, AR
Name the syndrome and inheritance pattern: congenital diaphragmatic hernia coarse facial features, digital and nail hypoplasia, CNS abnormalities
Fryns syndrome, AR (friends share reseses)
Fragile X syndrome inheritance and repeat
X linked dominant, CGG
Name the disorder and pattern of inheritance: kinky lightly pigmented hair, copper deficiency (abnormality in copper transport), progressive cerebral deterioration, seizures, Wormian bones,
Menkes syndrome, X linked recessive
CHARGE syndrome stand for and pattern of inheritance
Coloboma, Heart Disease, Atresia of Choanae, Retarded growth, Genital hypoplasia, and ear anomalies, AD on mutation in chromodomain helicase DNA binding gene 7 on chromosome 8q12.
Name the syndrome and genetic abnormality: cardiac issue, down slanting palpebral fissure, anal atresia with rectovestibular fistula, Coloboma or iris, micrognathia
Cat eye syndrome, extra part of chromosome 22, usually in quadruplicate or triplicate 22q11 region
