Genetics

Question 1

Affected Gene and inheritance pattern for Osteogenesis imperfects type 1-4

Answer 1

COL1A, Autosomal Dominant (type 1), type II is most severe and lethal, features of all include bone fragility, blue sclera, hearing loss, short stature

Question 2

Affected gene in thanatophoric dysplasia and achondroplasia and inheritance pattern

Answer 2

FGFR3, autosomal dominant, features include narrow thoraces, hypoplastic lungs, cloverleaf skull deformity, usually results in death from respiratory failure.

Question 3

Affected gene and inheritance pattern of Stickler syndrome

Answer 3

COL2A, autosomal dominant (cleft palate, Pierre robin sequence, sensorineural hearing loss, and cataracts.

Question 4

Beck with Wiedemann syndrome can be caused by…

Answer 4

Loss of Methylation on maternal chromosome 11 (50%), paternal unilateral disomy (20%), gain of methylation on maternal chromosome 11 (5%).

Question 5

Syndromes that have port wine stains

Answer 5

Sturge Webber, kipper-Trenauay-Weber, beckwith-wiedemann syndrome, Cobb syndrome

Question 6

Major criteria for CHARGE

Answer 6

Coloboma, choanal atresia, cranial nerve dysfunction, ear anomaly

Question 7

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

Answer 7

Apert, AD, mutation in fibroblast growth factor receptor 2 gene.

Question 8

Name the disorder and inheritance pattern: maxillary hypoplasia, shallow orbits, premature craniosynostosis, parrot beak nose, mental deficiency less common

Answer 8

Crouzon, AD, mutation in fibroblast growth factor receptor 2 gene

Question 9

Diseases associated with cleft palate

Answer 9

Digeorge, Meckel-Gruber, Pierre robin, smith-lemi Opitz, and trisomy 13, Charge association, goldenhar, treacher collin

Question 10

Tuberous Sclerosis (chromosome 9,16), neurofibromatosis, (chromosome 17) and Von Hillel-Linda’s (chromosome 3) are all AD or AR?

Answer 10

AD

Question 11

Nodules that are typically 1-2 mm, gray-white or yellow, smooth and usually located on the maxillary alveolar ridge

Answer 11

Bohn nodule (Epstein pearls typically located on hard palate)

Question 12

Malformations of bones as a result of an insult during organogenesis

Answer 12

Dysostoses

Question 13

Affect gene and inheritance pattern of Jenue Syndrome

Answer 13

IFT80, AR

Question 14

What is the deletion in the genetic disease characterized by Wilms tumor, aniridia, GU abnormalities, and mental deficiency

Answer 14

WAGR syndrome, 11p13 deletion

Question 15

What is the genetic disease and deletion characterized by cardiac anomalies, broad thumbs and toes, hirsutism, downward slanting palpebral fissures, hypoplastic maxilla

Answer 15

Rubenstein-Taybi syndrome, 16p13.3 deletion (Ruben has the broad thumb and toes)

Question 16

What syndrome and what pattern do f inheritance is the following: absent bilateral radii, thumbs present, ulnar abnoramalities, thrombocytopenia

Answer 16

TAR (thrombocytopenia-radial aplasia), autosomal recessive (absent bilateral radiii because got stuck in tar, Reese’s fell in)

Question 17

Name the genetic disorder and pattern of inheritance: upper limb defects, absent hypoplastic or abnormally shaped thumbs. Cardiac abnormalities common

Answer 17

Holt-Oram Syndrome, AD some associated with 12q2

Question 18

Name the genetic syndrome and pattern of inheritance: radial hypoplasia, thumb hypoplasia, pancytopenia, hyperpigmentation, short stature

Answer 18

Fanconi Pancytopenia, AR.

Question 19

Name the syndrome and pattern of inheritance: defect in cholesterol synthesis—> low cholesterol, 2nd and third toe syndactoly, hypogenitelia, hypospadias

Answer 19

Smith-Leno-Opitz, AR

Question 20

Name the syndrome and inheritance pattern: congenital diaphragmatic hernia coarse facial features, digital and nail hypoplasia, CNS abnormalities

Answer 20

Fryns syndrome, AR (friends share reseses)

Question 21

Fragile X syndrome inheritance and repeat

Answer 21

X linked dominant, CGG

Question 22

Name the disorder and pattern of inheritance: kinky lightly pigmented hair, copper deficiency (abnormality in copper transport), progressive cerebral deterioration, seizures, Wormian bones,

Answer 22

Menkes syndrome, X linked recessive

Question 23

CHARGE syndrome stand for and pattern of inheritance

Answer 23

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.

Question 24

Name the syndrome and genetic abnormality: cardiac issue, down slanting palpebral fissure, anal atresia with rectovestibular fistula, Coloboma or iris, micrognathia

Answer 24

Cat eye syndrome, extra part of chromosome 22, usually in quadruplicate or triplicate 22q11 region

Question 25

Which genetic syndrome has 3rd and 4th finger syndactyly, large placenta with hydatiform changes, intrauterine growth restriction, brain abnormalities.

Answer 25

Triploidy

Question 26

If club feet is detected prenatally approximately ____percent will have a second anomaly.

Answer 26

60

Question 27

Mitochondrial syndrome with progressive neurodegenerative disease

Answer 27

Leigh syndrome

Question 28

Name the syndrome: micromelia, synophrys, thin down turning upper lip, long curly eyelashes, hypertonicotu, microbrachycephaly, hirsutism, low posterior hairline

Answer 28

Cornelia de Lange Syndrome

Question 29

Sporadic 6th and 7th nerve palsy usually bilatera

Answer 29

Möbius sequence

Question 30

Genetic disorder due to first and second brachial arch abnormalities

Answer 30

Goldenhar syndrome (mandibular hypoplasia, deafness, hemivertibrae, renal abnormalities, cardiac abnormalities

Question 31

Early developmental defect of cervical vertebrae (short neck, limited movement of head) failure of scapula to descend

Answer 31

Klippel-Feil sequence (Kippies scapula failed to descend)

Question 32

Asymmetric limb hypertrophy and vascular lesions

Answer 32

Klippel-Trenaunay Weber Syndrome

Question 33

Unilateral hypoplasia or absence of pectoralis muscle with same sided upper extremity anomaly, if left sides could have dextrocardia

Answer 33

Poland sequence

Question 34

Small triangular facies, short stature, congenital asymmetry of skeleton, cafe au lait spots, 5th finger Clindactoly, hypoglycemia

Answer 34

Russell, silver syndrome (Russell has a triangle face)

Question 35

Imperforate anus+ dysplastic ears + thumb anomalies

Answer 35

Townes-Brock’s Syndrome (goofy Nate)

Question 36

Clinodactyly

Answer 36

Carpenter syndrome, Cornelia de lange, deletion 13q, Klinfelter, rubensyein tabi syndrome, Tri 21, holt Oram, prader willi

Question 37

Coloboma

Answer 37

Cat eye, charge, deletion 13q, treacher Collin, Tri 13.

Question 38

Limb hypertrophy

Answer 38

Beck with weiderman, Klippel-trenauney-Weber

Question 39

Prominent lips

Answer 39

Tri 8, WAGR, Williams

Question 40

Macroglosia

Answer 40

Beck with weiderman, congenital hypothyroidism; Tri 21.

Question 41

Cafe au lait spots plus learning difficulties, microcephaly, avxillary freckling

Answer 41

Legius syndrome , AD, spred1 gene

Question 42

Prevalence of minor congenital anomalies

Answer 42

20%

Question 43

Name a contiguous gene deletion

Answer 43

Angelman syndrome