Chromosomal Abnormalities PT2

Question 1

exchange of material between 2 diff chromosomes which invole NO LOSS/GAIN of chrom material

Answer 1

reciprocal translocatio

Question 2

participating chrom (ACROcentric) break at their centromere; LONG ARMS FUSE = single large chromosome

Answer 2

ROBERTSONIAN TRANSLOCATION

Question 3

Robertsonian Translocation: what “arms” are lost?

Answer 3

p arm

Question 4

Loss of a portion of a chromosome

Answer 4

deletion

Question 5

Extra piece of a chromosome

Answer 5

duplication

Question 6

PORTION of 1 chromosome is DELETEDfrom
its normal place & INSERTED into a region of another chromosome

Answer 6

INSERTION

Question 7

FRAGMENTATION of a chromosome followed by
RECONSTITUTION w/ a section inverted

Answer 7

INVERSION

Question 8

Centromere is WITHIN the loop = included

Answer 8

PERIcentric inversion

Question 9

Centromere OUTSIDE loop = not inc.

Answer 9

PARAcentric

Question 10

Division of chromosome at centromere TRANSVERSELY

Answer 10

ISOCHROMOSOMES

Question 11

Chromosome w/ identical parts; Upper arm is the same w/ the lower arm

Answer 11

ISOCHROMOSOMES

Question 12

Aberrant chromosome whose STICKY ENDS have
fused together forming a ring = removed telomeres

Answer 12

RING CHROMOSOMES

Question 13

Baby can’t recognize the mother
Delayed motor development = can’t support head

Answer 13

mental retardation

Question 14

delayed puberty

Answer 14

klinefelter syndrome and turner syndrome

Question 15

abnormal features

Answer 15

(CCLSM)

coarse facie
clinodactyly
low set ears
simian crease
mongoloid eyes

Question 16

most common chromosomal aberration

Answer 16

down syndrome

Question 17

down syndrome karyotype

Answer 17

47, XX/XY, +21

Question 18

total num of chrom in non-disjuction

Answer 18

47

Question 19

total num of chrom in translocation

Answer 19

46

Question 20

robersonian translocation

Answer 20

14q21q

Question 21

translocation carrier has how many chrom

Answer 21

45

Question 22

some cells are normal (46 chrom); some are trisomic (47 chrom)

Answer 22

mosaicism

Question 23

mental retardation and delayed motor movement is due to?

Answer 23

hypotonia

Question 24

inapprorpiate head proportion

Answer 24

brachycephaly

Question 25

20 times commoner in trisomy 21

Answer 25

leukemia

Question 26

Associated Congenital Anomalies

Answer 26

congenital heart disease duodenal atresia renal anomalies

Question 27

in cri du chat, -- of the child is improperly developed

Answer 27

larynx

Question 28

cause of cri du chat

Answer 28

DELETION of about HAF of the short/P ARM of CHROMOSOME 5

Question 29

prader willi deletion in --

Answer 29

15q1.11-1.13

Question 30

Establish diagnosis; Determine genetic type for genetic counselling & prognosis

Answer 30

karyotyping

Question 31

For suspected congenital heart disease

Answer 31

Chest x-ray and Echocardiography

Question 32

An agent/factor that causes malformation of embryo

Answer 32

teratogen

Question 33

common teratogens: TORCH

Answer 33

toxoplasmosis others rubella cytomegalovirus herpes

Question 34

common teratogens: drug and toxins

Answer 34

thalidomide anticoagulants antoconvulsants psychiatric drugs

Question 35

Refers to the ASSESSMENT of birth defects and unusual physical features that have their ORIGIN during EMBRYOGENESIS

Answer 35

dysmorphology

Question 36

Primary structural defect occurring during the DEVELOPMENT of a tissueor organ

Answer 36

malformation

Question 37

ex of malformation

Answer 37

spina bifida & cleft lip palate

Question 38

Implies an abnormal intrauterine mechanical force; DISTORTS a NORMALLY FORMED structure

Answer 38

deformation

Question 39

Involves DESTRUCTION of a FETAL part w/c initially formed normally

Answer 39

disruption

Question 40

Refers to abnormal cellular organization or function of specific tissue types

Answer 40

dysplasia

Question 41

disruption may cause

Answer 41

limb reduction defetcs

Question 42

ex of deformation

Answer 42

club foot, congenital hip dislocation

Question 43

ex of dysplasia

Answer 43

skeletal dysplasias and dysplastic kidney disease

Question 44

PATTERN of multiple abnormalities occurring after 1 initiating defect

Answer 44

sequence

Question 45

Fetal compression & pulmonary hypoplasia

Answer 45

potter's syndrome

Question 46

potter's syndrome is a sequence w/c all abnormalities may be traced to what 1 original malformation

Answer 46

renal agenesis

Question 47

GROUP of malformations that OCCUR TOGETHER together more often than expected by chance, but in different combinations from case to case

Answer 47

association

Question 48

Particular set of multiple anomalies occurs REPEATEDLY in a CONSISTENT pattern

Answer 48

SYNDROME

Question 49

Artificial introduction of genes into disease tissue in to cure the diseases

Answer 49

GENE THERAPY

Question 50

VACTERL Association

Answer 50

vertebral anomalies anal atresia cardiac defects tracheo-esophageal fistula renal anomalies limb defects