Final Exam: NU665A/ NU 665A (New 2024/
2025 Update) Primary Care of Child II
Guide| Qs & As | Grade A| 100% Correct
(Verified Answers)- Regis
QUESTION
Family history - genetics
Answer:
1. Does anyone in the family have/had a birth defect? - if yes, get more info about nature of
defect
2. Has anyone had a stillborn baby? A baby who died early? A baby who died unexpectedly? - to
identify unrecognized syndrome; if early - could be inheritable metabolic disorder; distinguish
SUID and SIDS
3. Is there any chance that you and your partner are blood-related? Is this pregnancy a product of
incest? Any history of incest in your extended family? - risk for AR disorders; if yes - genetics
counseling
4. Anyone in the family who see a HCP for a specific condition? - ask about hearing, vision,
growth disorders; significant if early onset, two or more close relatives affected; genetic heart
disease and genetic cancer risks are important - genetic consultation
5. Have you, your partner, or any siblings has three or more miscarriages? how about infertility
issues? - may indicate a chromosome translocation; order a karyotype of mother or father or
both; genetic syndrome may be considered due to not being able to maintaining a pregnancy
6. Anyone have learning problems, MR, behavioral disorders, delays? - look for multiple
members affected and associated with dysmorphic features - genetics
7. What is your ethnic/geographic background? your partners? - certain ethnic and or population
risk factors
QUESTION
Three-generation pedigree
Answer:
-The pedigree is a valuable visible record of genetic links and health-related information
,-Should include at least three generations and is much more helpful in visual form
-The health status of first, second, and third degree relatives of the individual's or child's family
-The process of constructing a family pedigree should begin with the nuclear family, followed by
added aunts and uncles, cousins, and grandparents
-Records their date of birth or age, relevant symptoms, traits, or disorders, as well as the ages of
diagnosis, and the ages and causes of death
-Record miscarriages, stillbirths, infertility, and any children relinquished for adoption
-Note missing information as missing
QUESTION
Genetic red flags from history
Answer:
1. Rule of Too/Two
-Too many of something, individual is too tall, too short, too early, too young, too different, and
so on
-Two birth defects, two cancers, two in a family, or two generations involved
QUESTION
Physical findings indicating inherited or congenital disorders
Answer:
1. General
-Short/tall stature
-Body/limb disproportion
-Failure to thrive or obesity
2. Craniofacial features
-Unusual head shape/circumference/fontanels
-Synophyrys (fused eyebrows)
-Long eyelashes
-Hyper/hypotelorism
-Epicanthal folds
-Up/down slanting and/or short palpebral fissures
-Heterochromia, ptosis, cataract, glaucoma
-Low nasal bridge
,-Abnormal ear position/shape/tags/pits
-Short, long, or flattened philtrum
-Malar flattening
-Prominent metopic ridge
-Bifid uvula, high arched/cleft palpate
-Natal teeth/central incisor
-Micrognathia
3. Hands/feet
-Abnormal creases
-Short/long digits
-Prominent digital pads
-Clinodactyly (incurved fingers)
-Syndactyly (fused digits)
-Polydactyly
-Camptodactyly (bent/flexed)
-Dysplastic nails
4. Hair/skin
-Abnormal hair line or color
-Increased numbers or anterior location of hair whorl
-Hirsutism
-Hypopigmented/hyperpigmented patches
-Pigmented nevi
5. Neck
-Short, webbing
6. Chest
-Widely spaced or supernumerary nipples
-Abnormal chest shape
7. Abdomen/genitalia
-Redundant umbilicus
-Shawl scrotum
QUESTION
Diagnostic genetic testing
, Answer:
1. Karyotype - used to identify and evaluate the size, shape, and number of chromosomes
-Detects large deletions or duplications
-Detects translocations
2. Fluorescence in situ hybridization (FISH) - used to locate and detect a specific area of a
particular chromosome including subtle missing, additional or rearranged chromosomal material
by labeling a known chromosome with fluorescent tags
-Detects large deletions or duplications
-Detects deletions or duplication in part of a chromosome
3. Chromosomal microarray - used to detect microdeletions or duplications in any of the
chromosomes but not specific gene mutations
-Detects large deletions or duplications
-Detects deletions or duplication in part of a chromosome
-Detects small deletions or duplications
4. Molecular testing - used to detect specific single gene mutations known to cause single gene
disorders
-Detects very small structure and sequence changes and single gene mutations
QUESTION
Newborn screening
Answer:
-Used to identify inherited and congenital disorders that can benefit from early diagnosis and
treatment
-It involves individual and family education, mass screening for a select subset of congenital or
inherited conditions, and short and long term follow-up plans for newborns who screen positive
-34 core conditions and 26 secondary conditions for which baby should be screened
QUESTION
Genetics - ethical issues
Answer:
-The national human genome research institute
