Genetics MCN 568 UPDATED Exam
Questions and CORRECT Answers
what is the genetic factor of congenital myotonic dystrophy? - CORRECT ANSWER -
Autosomal Dominant
The following clinical features are found in what single-gene disorder? poor sucking, difficulty
swallowing, generalized hypotonia, facial diplegia ( weakness on both sides), clubfoot, cataracts,
ptosis, mental retardation, tent-shaped mouth, gonadal insufficiency, respiratory failure -
CORRECT ANSWER - Congenital myotonic dystrophy
Nerve conduction velocities are normal in what single gene disorder? A) congenital myotonic
disorder B) CF C)OI - CORRECT ANSWER - A) congenital myotonic dystrophy
Many die in infancy due to repsiratory failure with this single gene disorder - CORRECT
ANSWER - congenital myotonic dystrophy
Estimated % are autosomal dominant with marked variability in expression - CORRECT
ANSWER - Osteogenesis imperfecta
NTD's, clubfoot, pyloric stenosis, hypospadias and cleft lip and palate all demonstrate with of the
following patterns of inheritance
A) sex linked
B) multifactorial
C) autosomal recessive - CORRECT ANSWER - multifactorial
The most common type of NTD is
A) anencephaly
B) encephalocele
C) myelomeningocele
,D) meningocele - CORRECT ANSWER - myelomeningocele
An increased risk of behavior problems is associated with which disorder? - CORRECT
ANSWER - XYY
Approximately 95% of these syndromes are aborted spontaneously and the female to male ratio
is 3:1? - CORRECT ANSWER - Trisomy 18(Edward)
Complete trisomy, translocation and mosaic forms are genetic factors of what syndrome? -
CORRECT ANSWER - Trisomy 18(Edwards)
Congenital lymphadema and widely spaced nipples are common in which of the following
disorders?
A. XO(turner) syndrome
B.XXY (Kleinfelter) Synfrome
C. XYY
D.(xxx)triple x syndrome - CORRECT ANSWER - A.Turner
Consanguinity is an important issue in which inheritance pattern? - CORRECT
ANSWER - B. Autosomal recessiue
Genetic Factors of this syndrome include extra chromosome usually arises from non-disjunction
in maternal meiosis I. 20% caused by unbalanced translocation - CORRECT ANSWER -
Trisomy 13(patau)
Hypogonadism + Hypogenitalism are common in which disorder? - CORRECT
ANSWER - Klinefetter
In what syndrome are males always infertile - CORRECT ANSWER - Downs
, Meiotic error usually is paternal in what syndrome? - CORRECT ANSWER - Monosomy
X ( Turner Syndrome)
Monosomies tend to be more ________ than trisomies - CORRECT ANSWER -
detereterious
Most common chromosomal abnormality? - CORRECT ANSWER - Downs
Most common clinical features of this syndrome include the following:
severe mental deficiency
CHD
cleft lip and palate
holoprosencephaly
microcephaly
coloboma
micropthalmia
apparent deafness
abnormal posturing of fingers
malformed ears - CORRECT ANSWER - Trisomy 13 ( Patau)
Non-Disjunction during meiosis I is the cause for what syndrome? - CORRECT
ANSWER - Downs
Normal gametes are composed of ______ chromosomes. Normal human somatic cell contains
____________ chromosomes - CORRECT ANSWER - 23; 46
One copy of the single gene is all that is required for expression of an? - CORRECT
ANSWER - autosomal dominant trait
Questions and CORRECT Answers
what is the genetic factor of congenital myotonic dystrophy? - CORRECT ANSWER -
Autosomal Dominant
The following clinical features are found in what single-gene disorder? poor sucking, difficulty
swallowing, generalized hypotonia, facial diplegia ( weakness on both sides), clubfoot, cataracts,
ptosis, mental retardation, tent-shaped mouth, gonadal insufficiency, respiratory failure -
CORRECT ANSWER - Congenital myotonic dystrophy
Nerve conduction velocities are normal in what single gene disorder? A) congenital myotonic
disorder B) CF C)OI - CORRECT ANSWER - A) congenital myotonic dystrophy
Many die in infancy due to repsiratory failure with this single gene disorder - CORRECT
ANSWER - congenital myotonic dystrophy
Estimated % are autosomal dominant with marked variability in expression - CORRECT
ANSWER - Osteogenesis imperfecta
NTD's, clubfoot, pyloric stenosis, hypospadias and cleft lip and palate all demonstrate with of the
following patterns of inheritance
A) sex linked
B) multifactorial
C) autosomal recessive - CORRECT ANSWER - multifactorial
The most common type of NTD is
A) anencephaly
B) encephalocele
C) myelomeningocele
,D) meningocele - CORRECT ANSWER - myelomeningocele
An increased risk of behavior problems is associated with which disorder? - CORRECT
ANSWER - XYY
Approximately 95% of these syndromes are aborted spontaneously and the female to male ratio
is 3:1? - CORRECT ANSWER - Trisomy 18(Edward)
Complete trisomy, translocation and mosaic forms are genetic factors of what syndrome? -
CORRECT ANSWER - Trisomy 18(Edwards)
Congenital lymphadema and widely spaced nipples are common in which of the following
disorders?
A. XO(turner) syndrome
B.XXY (Kleinfelter) Synfrome
C. XYY
D.(xxx)triple x syndrome - CORRECT ANSWER - A.Turner
Consanguinity is an important issue in which inheritance pattern? - CORRECT
ANSWER - B. Autosomal recessiue
Genetic Factors of this syndrome include extra chromosome usually arises from non-disjunction
in maternal meiosis I. 20% caused by unbalanced translocation - CORRECT ANSWER -
Trisomy 13(patau)
Hypogonadism + Hypogenitalism are common in which disorder? - CORRECT
ANSWER - Klinefetter
In what syndrome are males always infertile - CORRECT ANSWER - Downs
, Meiotic error usually is paternal in what syndrome? - CORRECT ANSWER - Monosomy
X ( Turner Syndrome)
Monosomies tend to be more ________ than trisomies - CORRECT ANSWER -
detereterious
Most common chromosomal abnormality? - CORRECT ANSWER - Downs
Most common clinical features of this syndrome include the following:
severe mental deficiency
CHD
cleft lip and palate
holoprosencephaly
microcephaly
coloboma
micropthalmia
apparent deafness
abnormal posturing of fingers
malformed ears - CORRECT ANSWER - Trisomy 13 ( Patau)
Non-Disjunction during meiosis I is the cause for what syndrome? - CORRECT
ANSWER - Downs
Normal gametes are composed of ______ chromosomes. Normal human somatic cell contains
____________ chromosomes - CORRECT ANSWER - 23; 46
One copy of the single gene is all that is required for expression of an? - CORRECT
ANSWER - autosomal dominant trait
