MSK and Chromosome Patho Flashcards by Rexlin Sebastin

What anomaly of the umbilical cord is associated with sirenomelia?

Single Umbilical Artery

3 Vessel Cord

Cord Prolapse

Nuchal Cord

Single Umbilical Artery

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A dominant disorder means how many genes cause the condition?

two

one

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When an expecting mother is past 17 weeks gestation, which of the following diagnostic tests would most likely be recommended for a possible chromosomal anomaly?

Amniocentesis

FISH

Chorionic Villi Sampling

Cordocentesis

Amniocentesis

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Fusion of fingers or toes is called:

Polysyndactyly

Ectrodactyly

Sirenomelia

Syndactyly

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AFP is _____ in fetal serum.

A complex vitamin

A protein

A sugar

A fat

A protein

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Which of the following is the second most common chromosomal trisomy?

Trisomy 18

Triploidy

Turner’s Syndrome

Trisomy 21

Trisomy 18

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In which of these normal conditions would AFP be elevated? Select all that apply.

open spina bifida

twin pregnancy

fetal demise

triplet pregnancy

incorrect dates

twin pregnancy
triplet pregnancy

incorrect dates

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A large cystic hygroma may be found with which of the following chromosomal abnormalities?

Patau’s Syndrome

Turner’s Syndrome

Down Syndrome

Edward’s Syndrome

Turner’s Syndrome

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If a fetus has more than five digits on any extremity it will be said as having:

Polysyndactyly

Polydactyly

Ectrodactyly

Syndactyly

Polydactyly

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This rare disorder has features that include postural contractures, scoliosis, and hand abnormalities especially a fixed abducted thumb (hitch-hiker’s thumb).

Diastrophic Dysplasia

Osteogenesis Imperfecta

Thanatophoric Dysplasia

Achondrogenesis

Diastrophic Dysplasia

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The most common lethal dysplasia is:

Achondrogenesis

Achondroplasia

Thanatophoric Dysplasia

Sirenomelia

Thanatophoric Dysplasia

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Which of the following is NOT associated with Trisomy 21?

echogenic bowel

bowed long bones

ventriculomegaly

urinary tract dilation

bowed long bones

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Rocker Bottom foot means that the:

sole of the foot is concave

sole of the foot is absent

sole of the foot is convex

club foot

sole of the foot is convex

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Langer-Saldino is a type of:

Achondrogenesis

Osteogenesis Imperfecta

Achondroplasia

Arthrogryposis Multiplex Congenita

Achondrogenesis

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When genes and environmental factors create an abnormality is termed a/an:

multifactorial condition

aneuploidy condition

Mosaic condition

X-linked condition

multifactorial condition

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Triploidy means that there is:

a missing chromosome

a complete missing set of chromosomes

a complete extra set of chromosomes

a single added chromosome

a complete extra set of chromosomes

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In some cases, the fetus may present with a blue tint to the sclera of the eyes.

Diastrophic dysplasia

Osteogenesis Imperfecta

Congenital Hypophosphatasia

Sirenomelia

Osteogenesis Imperfecta

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When the umbilical cord is sampled for fetal blood it is termed:

Amniocentesis

FISH

Quadruple Test

Cordocentesis

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Another name for monosomy X is:

Turner’s Syndrome

Down’s Syndrome

Patau’s Syndrome

Edward’s Syndrome

Turner’s Syndrome

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If Trisomy 21 is found then PAPP-A will be ____ compared to normal levels.

low

high

low

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If Trisomy 21 is found then PAPP-A will be ____ compared to normal levels.

low

high

low

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Talipes equinovarus means:

The feet/hand are absent

The palm of the hand is convex

The sole of the foot is convex

Club foot/feet

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A condition marked by severe contractures of extremities because of abnormal innervations (extrinsic) and disorders of muscles and connective tissue (intrinsic) is called:

Ectrodactyly

Radial Ray Defects

Arthrogryposis Multiplex Congenita

VACTERL Association

Arthrogryposis Multiplex Congenita

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Hypophosphatasia congenita and _____ can be confused with each other.

Osteogenesis imperfecta II

Osteogenesis imperfecta type IV

Anencephaly

Caudal Regression Syndrome

Thanatophoric dysplasia

Osteogenesis imperfecta II

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This disorder is a condition that presents with diffuse hypomineralization of bone caused by alkaline phosphatase deficiency. Osteogenesis Imperfecta Short-rib Polydactyly Syndrome Hypophosphatasia Congenita Camptomelic Dysplasia

Hypophosphatasia Congenita

This rare and lethal dysplasia is caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization. There are 2 types. Hypophosphatasia Achondroplasia Achondrogenesis Osteogenesis Imperfecta

Achondrogenesis

Which of the following is TRUE of Trisomy 18? The infant will be of normal intelligence It is associated with sirenomelia It is very survivable The fetus may spontaneously abort

The fetus may spontaneously abort

What is mosaicism? when 2 people have 2+ different sets of cells when 1 person has 2+ different sets of cells normal karyotype when 1 person has 1 set of cells

when 1 person has 2+ different sets of cells

A rare and lethal dysplasia that is also known as “bent limb dysplasia”. Caudal Regression Syndrome Campomelic Dysplasia Congenital Hypophosphatasia Sirenomelia

Campomelic Dysplasia

The most common nonlethal dysplasia is: Heterozygous Achondroplasia Homozygous Achondrogenesis Osteogenesis Imperfecta Camptomelic Dysplasia

Heterozygous Achondroplasia

A split hand deformity is called: Syndactyly Talipes Polysyndactyly Ectrodactyly

Ectrodactyly

Triploidy means that there is: a single added chromosome a missing chromosome a complete extra set of chromosomes a complete missing set of chromosomes

a complete extra set of chromosomes

This is a rare disorder of collagen production leading to brittle bones that result in fractures. Sirenomelia Osteogenesis Imperfecta Achondroplasia Camptomelic Dysplasia

Osteogenesis Imperfecta

The most common lethal dysplasia is: Achondrogenesis Sirenomelia Thanatophoric Dysplasia Achondroplasia

Thanatophoric Dysplasia

When the umbilical cord is sampled for fetal blood it is termed: Amniocentesis Quadruple Test FISH Cordocentesis

Cordocentesis

This rare dysplasia affects the muscles and connective tissues of the body, resulting in contractures, especially the distal extremities. Sirenomelia Thanatophoric Dysplasia Diastrophic Dysplasia Arthrogryposis Multiplex Congenita

Arthrogryposis Multiplex Congenita

When an expecting mother is past 17 weeks gestation, which of the following diagnostic tests would most likely be recommended for a possible chromosomal anomaly? Amniocentesis FISH Cordocentesis Chorionic Villi Sampling

Amniocentesis

Another name for monosomy X is: Turner's Syndrome Down's Syndrome Edward's Syndrome Patau's Syndrome

Turner's Syndrome

A condition in which the radius of the forearm is missing is considered a: Sandal fingers Talipomanus Amelia Radial Ray Defect

Radial Ray Defect

Fusion of fingers or toes is called: Syndactyly Sirenomelia Polysyndactyly Ectrodactyly

Syndactyly

What respiratory complication is caused by most skeletal dysplasias? Think small thorax... Pulmonary hypoplasia Pulmonary edema Pleural effusion Pulmonary agenesis

Pulmonary hypoplasia

Which of the following labs can be done together for increased probability of diagnosis of Trisomy 21? Mark 3 answers. AST b-hCG Nuchal Translucency PAPP-A AFP

b-hCG Nuchal Translucency PAPP-A

Which of the following is not a component of the Quadruple Screen? PAPP-A hCG AFP unconjugated estriol

PAPP-A

Which of the following is NOT associated with Trisomy 21? bowed long bones ventriculomegaly echogenic bowel urinary tract dilation

bowed long bones

Which type of Osteogenesis Imperfecta is the most severe? Type III Type I Type IV Type II

Type II

What anomaly of the umbilical cord is associated with sirenomelia? 3 Vessel Cord Single Umbilical Artery Nuchal Cord Cord Prolapse

Single Umbilical Artery

A dominant disorder means how many genes cause the condition? two one

one

When genes and environmental factors create an abnormality is termed a/an: aneuploidy condition Mosaic condition X-linked condition multifactorial condition

multifactorial condition

Short bones is called: Sirenomelia Amelia Macromelia Micromelia

Micromelia

Triploidy is associated with which abdomen abnormality? no abdomen abnormality associated omphalocele gastroschisis

omphalocele

This rare disorder has features that include postural contractures, scoliosis, and hand abnormalities especially a fixed abducted thumb (hitch-hiker's thumb). Achondrogenesis Thanatophoric Dysplasia Osteogenesis Imperfecta Diastrophic Dysplasia

Diastrophic Dysplasia

AFP is produced by the _____________ early in pregnancy. fetal liver yolk sac gestational sac fetal kidneys

yolk sac

A large cystic hygroma may be found with which of the following chromosomal abnormalities? Patau's Syndrome Edward's Syndrome Down Syndrome Turner's Syndrome

Turner's Syndrome

Sampling of the placenta to detect chromosomal anomalies is called: Amniocentesis Quadruple Screen Chorionic Villus Sampling Cordocentesis

Chorionic Villus Sampling

In which of these normal conditions would AFP be elevated? Select all that apply. open spina bifida twin pregnancy fetal demise triplet pregnancy incorrect dates

twin pregnancy triplet pregnancy incorrect dates

This lab may be measured in the maternal serum or in the amniotic fluid. Estriol PAPP-A bhcG AFP

AFP

The sonographic features of this skeletal dysplasia include hypomineralization of bones with the skull being greatly affected, multiple fractures throughout the skeleton, narrow thorax and micromelia. In some cases, the fetus may present with a blue tint to the sclera of the eyes. Diastrophic dysplasia Osteogenesis Imperfecta Sirenomelia Congenital Hypophosphatasia

Osteogenesis Imperfecta

Which of the following is associated with trisomy 18? CDH choroid plexus cysts all listed clenched hands omphalocele

all listed

A disadvantage of a fluorescence in situ hybridization is: it provides limited analysis it takes 6 months to get results it is more dangerous than a typical amniocentesis

it provides limited analysis

A rare group of dysplasias characterized by short ribs, short limbs, and polydactyly. Caudal Regression Syndrome Camptomelic Dysplasia Short-Rib Polydactyly Syndromes Diastrophic Dysplasia

Short-Rib Polydactyly Syndromes

The condition in which the legs of the fetus are fused as one is called: Achondrogenesis VACTERL association Diastrophic dysplasia Sirenomelia

Sirenomelia

Which of the following is the second most common chromosomal trisomy? Triploidy Trisomy 18 Trisomy 21 Turner's Syndrome

Trisomy 18

Common findings of _______________ include holoprosencephaly, echogenic kidneys, polydactyly and IUGR. Edwards syndrome Patau syndrome Down syndrome Triploidy

Patau syndrome

Which age group is at the highest risk for having a fetus with chromosomal anomalies? advanced maternal age maternal age doesn't affect occurrence prepubescent age

advanced maternal age

Amniocentesis should be performed between ____ weeks. 10-13 28-34 15-20

15-20

Caudal Regression Syndrome is associated with which of the following: monozygotic twins paternal blood pressure maternal diabetes cocaine use

maternal diabetes

If a fetus has more than five digits on any extremity it will be said as having: Ectrodactyly Polysyndactyly Polydactyly Syndactyly

Polydactyly

Langer-Saldino is a type of: Arthrogryposis Multiplex Congenita Osteogenesis Imperfecta Achondroplasia Achondrogenesis

Achondrogenesis

AFP is _____ in fetal serum. A complex vitamin A protein A fat A sugar

A protein

MSK and Chromosome Patho Flashcards

(69 cards)