46,XY,del(9)(q31.2q33.1)

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Contents 1 46,XY,del(9)(q31.2q33.1) 2 Definition 3 Description, Signs and Symptoms 4 Inheritance 5 Demographics 6 Diagnosis 7 Treatment and Management 8 Prognosis 9 Resources 10 References

[edit] 46,XY,del(9)(q31.2q33.1)

[edit] Definition

This is a rare genetic disorder.

This Karyotype reflects a deletion found in the long arm of chromosome 9 between the bands of 31.2 to 33.1

[edit] Description, Signs and Symptoms

HEALTH/MENTAL

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• Oblique Talus & Congenital Vertical Talus foot deformity

• Long standing Serous Otitis Media - ear canals formed to small
  • 4 surgery's for PE tubes and tissue removal to open up canal. Permanent Partial hearing loss.

• Microcephaly

• Structural differences in brain

• Sever acid reflex

• Chronic constipation
  • Intussusception

• Pituitary gland that regulates growth hormones is at a lower level of normal

• 1/4 systolic heart murmur which varies with respiration

• Hypotonic throughout body
  • including his mouth which creates a choking hazard

• Extremely low muscle tone throughout body which limits him to walk long distances
  • frequent leg pains.

• Muscle in coordination

• Poor balance

• Poor motor, gross motor and visual skills

• Memory loss

• Near sighted, requires glasses
  • Hypermetopia and Astigmatism

• Eating problems

• Sleeping problems
  • Has day dreams has nightmares

• Profound Global Developmental Delay

• Language, communication & speech disorders

• Social & emotional development problems

• Articulation Disorder

• Sensory processing deficit

• Deficits in all areas of adaptive behavior

• Functional delays in self care

• Poor safety awareness for self
  • No understanding of pain, danger or strangers

• Significant challenging behavioral problems
  • Self injuring - aggressive to others (child & adult)

• PDD, NOS

• ASD

PHYSICAL CHARACTORISTICS

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-Birth weight in 3rd percentile

-Hypoplasia of toe nails

-Clinodactyly of 5th fingers

-Simian Crease on the right

-Short Palperbral Fissures

-Prominent nose with broad nasal bridge

-Short Filtrum with thin upper lip

-Relatively small wide spaced teeth

-Prominent chin

-Posteriorly rotated ears

-High-arched palate

[edit] Inheritance

1. Can be inherited if one or both parents are carriers
2. It can occur spontaneously - without either parent effected (this is called DE NOVO)

[edit] Demographics

White Male, 7 years old, D.O.B. 10/28/2003

Mother at age of birth - 27, Father 30

Location; Minneapolis, MN - Middle Class

~Both parents tested & have normal chromosomes~ ~2 other siblings in family, both normal chromosomes~

THIS IS A CASE OF DE NEVO

[edit] Diagnosis

== Microarray comparative genomic hybridisation (array-CGH) ==

• With array-CGH analysis, DNA is usually extracted from a blood sample. This technique utilises a microarray which is, in simple terms, a glass slide on which there are thousands of ‘spots’ of a reference (control) DNA sample.

• The control sample is from a person who is known to have two complete copies of each chromosome (as is usual).
  • The person of interest’s DNA is compared with the reference DNA.
    • An analysis of the ratio of the two sets of DNA can determine whether there is the correct amount of DNA, too much or too little.

• This technique is extremely sensitive and therefore much smaller gains or losses of DNA (called microduplications or microduplications)throughout the entire human genome (ie across all the chromosomes) can be detected than was possible with karyotyping.

EXAMPLE OF A KARYOTYPE:

[edit] Treatment and Management

• Symptomatic
  • Therapy required daily to function:

1. Glasses for eyes
2. Occupational therapy
3. Physical therapy
4. Speech therapy
5. Social Skills classes
6. Medication twice daily for:
   1. behavior
      1. sleep
         1. ADHD
7. ABA
8. Articulation services
9. DAPE services
10. Sensory breaks
11. Visual guides
12. Reading probes
13. Assistive technology
14. PCA services daily - home and community - needs constant supervision
15. IEP - Special Education, Level 3-4 setting
16. Disabled by the SSA - monthly SSI payments
17. Casts worn on both feet at birth due to foot deformity - for 18 mo.
    1. then moved into special shoes with metal bar connecting them for 6 mo

[edit] Prognosis

-NONE-

At this time there is no expected life time, function, or a description of the disease course.

This is the first case known globally

[edit] Resources

Minnesota Department of Health Anoka County Social Services Senator Al Franken Office PACER Center Gillette Childrens Hospital & Specialty Health Care Childrens Hospital and Clinics of St.Paul Mayo Clinic U of M - Genetics Department National Institute of Health (NIH) National Organization of Rare Disorders (NORD) Pubmed National Library of Medicine The National Childrens Study American Journal of Medical Genetics Unique! Rare Chromosome Disorder Support Group Chromosome Disorder Outreach (CDO) Genetic Alliance Childrens R.A.R.E. Disease Network Syndromes with out a name - US (S.W.A.N.-US) MUMS

[edit] References