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N404 Genetic Disorders
Transcript of N404 Genetic Disorders
Tami Bland, DNP, CPNP
Genetic tumor disorder
Autosomal dominant but half are new mutations
Mutation in or deletion of the NF1 gene on the long arm of chromosome 17
Neurofibromas (Cutaneous & Plexiform)
Vision and hearing loss
(von Recklinghausen disease)
Diagnostic (2 of 7 criteria)
At least 6 café au lait spots
Axillary or inguinal freckles
2 or more neurofibromas
Optic nerve glioma
2 or more iris hamartomas (lisch nodules)
Long bone abnormalities
1st degree relative with NF 1
Disorder of the connective tissue
Mutation of the FBN1 gene
on the long arm of
Aortic root dilatation
High arched palate
Genetic Disorder: an abnormality in an individual's genetic material or genome
Single family member via spontaneous mutation
Multiple family members via inheritance of abnormal genes
an organisms entire hereditary informaton encoded in the DNA
outward characteristics of the individual
specific genetic makeup of an individual
Mendelian Laws of Inheritance
Pattern of inheritence from single gene from each parent
Autosomal genetic disorder: defect is on one of the 22 nonsex chromosomes (autosomes)
X linked genetic disorder: defect is on the X chromosome of the sex chromosome
X linked Recessive Disorders
Autosomal Recessive Disorders
May be inherited, but most are random events
May be due to an error in the structure such as deletion, duplication, inversion, misplacement or exchanging of parts of a chormosome
error is not on chromosomes in every cell
symptoms are usually less severe.
Disorder affecting brain function
Most common cause of intellectual disability
Long narrow face; prominent ears, forehead, and jaw; high arched palate; hyperextensible joints
Expressive language impaired
Mild to severe mental retardation
Autistic like behaviors (hand-flapping, hand-biting)
Mitral valve prolapse
Fragile X Syndrome
Chromosomal structural deletion
Large ears, almond shaped eyes
Growth hormone replacement
Prader Willi Syndrome
Upslanting palpebral fissures
Bilateral epicanthal folds
Flat nasal bridge
Open mouth with tongue protrusion
Small ears with overfolded helix
Short, broad hands
Clinodactyly of 5th fingers
Single flexion crease
Excessive space between large and second toe
Chromosomal autosomal trisomy
Full trisomy from egg or cell nondisjunction before, at, or after conception
Mosaicism has some cells with extra chromosome 21 and some do not
Translocation with a chromosome having extra material from chromosome 21 attached - not associated with advanced maternal age and 25% are hereditary
Maternal age of 20 = 1 in 1600
Maternal age of 30 = 1 in 1000
Maternal age of 35 = 1 in 365
Maternal age of 40 = 1 in 100
Maternal age of 45 = 1 in 50
Chromosomal Gonosomal Trisomy -one or more extra copies of the X chromosome in male cells
Slim, tall with long limbs
Treatment - Androgen therapy
Usually not diagnosed until adolescence - many missed
No usual decrease in intellectual disability
50% chance of unaffected child
50% chance of being affected
Mom the carrier:
Boy: 50% affected
Girl: 50% carrier
Dad the carrier:
Boy: 100% unaffected
Girl: 100% carrier
Be alert to children who should receive genetic testing.
Do the positives outweigh the negatives?
Who gets the information?
Remember that a genetic diagnosis is a family diagnosis.
Adolescents who have a carrier status must fully understand the risks associated with reproduction.
Parents often suffer from guilt when their child has a disease connected with the parents' genetic makeup. But remember, that frequently it is a new gene mutation and as no connection with the parent gene. Education of the family is critical.
Help the family understand the importance of helping their child become all she can be.
Watch for poor coping mechanisms and ensure that appropriate providers, such as social work, are in place.
Always offer to help the family connect to a support group for the relevant diagnosis.
Must have 2 carrier parents in order to have an affected child!
The Marfan Foundation: http://www.marfan.org/?gclid=CNfV5amnur0CFaMcOgodkz0AuQ
NF Network: http://www.nfnetwork.org/?gclid=CPDB04Gour0CFSwdOgodyTsAVA
National Fragile X Foundation: http://www.fragilex.org/
Prader Willi Syndrome Association: http://www.pwsausa.org/
National Down Syndrome Assoc: http://www.ndss.org/
Down Syndrome Awareness Group of East Tn: http://www.dsagtn.org/
Klinefelter Syndrome Support Group: http://www.klinefeltersyndrome.org/