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Genetic counseling (Williams syndrome (del 7q11.2
AD, near 70%- de novo
…
Genetic counseling
Williams syndrome
- del 7q11.2
AD, near 70%- de novo
Genes:
ELN (elastine) - connective tissue disorders LIMK1 (lim kinase 1) - perception
GTF2I (general transcription factor II-I) – IQ
- Short stature
Prominent supraorbital region Hypotelorism
Blue iris
Flat nostrils
Caries and maloclusion Micrognatia
Williams syndrome
• Congenital heart malformations
• Congenital urogenital malformation
• Hypercalcemia-rare
- Effects
Mental Retardation
• Behavior Characteristics – “Cocktail Party” personality
• Memory loss
• Learning Disabilities
• Neurological Problems
• Auditory & Verbal
– Sensitive hearing
– Amazingmusicalabilities
Prader Willi syndrome
Frequency : 1:10 000
Infant hypotonia
Obesity after infancy
Small and thin mouth
Small hands and feet
Hypogonadism
- Three phases :
Hypotonic Stage (prenatal-infancy)
Hyperphagic Stage (childhood)
Adolescence and Adulthood
Fragile X Syndrome
- Gene localisation- X q27.3
FMR1 gene
• CDG triplets expansion
Prevalence : 1 : 4000 males
- enlarged ears
- long face with prominent chin,
- large testicles (in post pubertal males)
- ear infections,
- mitral valve prolapse,
- flat feet
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Rett syndrome
- Frequency 1:10000-1:1500
Gene localisation MeCP2 (Xq28)
Lethal in males
Normal development t o 6-18 months Developmental arrest
Acquired macrocephaly
Autism
Stereotypes
Ataxia
Scoliosis
Breathing difficulties
Process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or ameliorate it.