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Пишет svetlana75 (![[info]](http://lj.rossia.org/img/userinfo.gif){kind=small} svetlana75)@ 2010-02-24 18:45:00 |
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я тут нарыла еще один англоязычный сайт с описанием нарушений разных хромосом. и хотя, конечно, не верно рассматривать 2 наших хромосомы как отдельные синдромы, но вариантов у меня нет - описания (7р+;9р-) как единого синдрома нигде нет....
Symptoms of Chromosome 7, trisomy 7p
The list of signs and symptoms mentioned in various sources for Chromosome 7, trisomy 7p includes the 43 symptoms listed below:
- Long head
- Asymmetric skull
- Wide fontanels
- High forehead
- Full cheeks
- Premature fusion of skull bones
- Small upper jaw
- Small lower jaw
- Large ears
- Dysplastic ears
- Low-set ears
- Posteriorly rotated ears
- Floppy ears
- Upward slanting space between eyelids
- Widely spaced eyes
- Drooping upper eyelid
- Beaked nose
- Highly arched palate
- Cleft palate
- Carp-shaped mouth
- Down turned corners of mouth
- Prominent lips
- Redundant skin
- Long thin fingers
- Clubfoot
- Thumb dislocation
- Broad digits
- Hyperflexible fingers
- Hyperflexible wrists
- High dermal ridge count
- Transverse hypothenar creases
- Hip dislocation
- Genu valgum
- Reduced muscle tone
- Hypotrichosis
- Low posterior hairline
- Dilated cerebral ventricles
- Congenital heart defect
- Small penis
- Mental retardation
- Speech retardation
- Feeding difficulty
- Failure to thrive
Treatments for Chromosome 7, trisomy 7p
The list of treatments mentioned in various sources for Chromosome 7, trisomy 7p includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.
- Treatment varies depending on the type and severity of symptom that develop
- Surgery may be needed to correct defects or abnormalities e.g. heart defects, cleft palate
- Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
- Various symptomatic and supportive measures as required
- Genetic counseling and joining a support group is recommended
About prognosis:
The 'prognosis' of Chromosome 7, trisomy 7p usually refers to the likely outcome of Chromosome 7, trisomy 7p. The prognosis of Chromosome 7, trisomy 7p may include the duration of Chromosome 7, trisomy 7p, chances of complications of Chromosome 7, trisomy 7p, probable outcomes, prospects for recovery, recovery period for Chromosome 7, trisomy 7p, survival rates, death rates, and other outcome possibilities in the overall prognosis of Chromosome 7, trisomy 7p. Naturally, such forecast issues are by their nature unpredictable.
Symptoms of Chromosome 9p deletion syndrome
The list of signs and symptoms mentioned in various sources for Chromosome 9p deletion syndrome includes the 29 symptoms listed below:
- Trigonocephaly
- Sunken dimples
- Monobrow
- Bushy eyebrows
- Upslanted eye slits
- Mildly wide set eyes
- Protruding eyes
- Underdeveloped midface
- Short nose
- Depressed nose bridge
- Anteverted nostrils
- Small jaw
- Irregular teeth
- High palate
- Narrow palate
- Small ears
- Posteriorly rotated ears
- Underdeveloped ear lobes
- Short neck
- Broad neck
- Wide set nipples
- Hernia
- Scoliosis
- Diastasis recti
- Genital anomalies
- Abnormal foot position
- Mental retardation
- Seizures
- Heart defects - rare
Treatments for Chromosome 9p deletion syndrome
The list of treatments mentioned in various sources for Chromosome 9p deletion syndrome includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.
- Treatment varies depending on the type and severity of symptom that develop. Most individuals have a range of medical problems which require evaluation and treatment from a range of specialists such as paediatricians, neurologists, physiotherapists, occupational therapists, special education teachers etc
- Surgery may be needed to correct defects or abnormalities e.g. heart defects, hernia
- Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
- Various other symptomatic and supportive measures
- Genetic counseling and joining a support group is recommended
About prognosis:
The 'prognosis' of Chromosome 9p deletion syndrome usually refers to the likely outcome of Chromosome 9p deletion syndrome. The prognosis of Chromosome 9p deletion syndrome may include the duration of Chromosome 9p deletion syndrome, chances of complications of Chromosome 9p deletion syndrome, probable outcomes, prospects for recovery, recovery period for Chromosome 9p deletion syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Chromosome 9p deletion syndrome. Naturally, such forecast issues are by their nature unpredictable.
