embriología Flashcards
Growth retardation Varying degrees of intellectual disability craniofacial abnormalities Epicantal folds small ears Flat facies Cardiac defects Hypotonia
Down’s syndrome
Down’s syndrome
Growth retardation Varying degrees of intellectual disability craniofacial abnormalities Epicantal folds small ears Flat facies Cardiac defects Hypotonia 1 in 2000 in women under 25 1 in 300 in women at age 35 1 in 100 in women at age 40.
Intellectual disability congenital heart defects Low seat ears flexion of fingers and hands micrognathia renal anomalies syndactyly malformations of the skeletal system
Trisomy 18
Trisomy 18
Intellectual disability congenital heart defects Low seat ears flexion of fingers and hands micrognathia renal anomalies syndactyly malformations of the skeletal system 5% live beyond one year
Trisomy 13
Intellectual disability Holoprosencephaly congenital heart defects deafness cleft lip and palate eye defects such as microphtalmia, anophtalmia and coloboma 1 in 20,000 5% live beyond 1 year
Intellectual disability Holoprosencephaly congenital heart defects deafness cleft lip and palate eye defects such as microphtalmia, anophtalmia and coloboma
Trisomy 13
Klinefelter syndrome
Only in males sterile testicular atrophy hyalinization of seminiferous tubules gynecomastia Tall stature Reduced body and facial hair growth 47 chromosomes XXY 1 in 500 males Sometimes it's 48 chromosomes: XXXY
Only in males sterile testicular atrophy hyalinization of seminiferous tubules gynecomastia 47 chromosomes XXY Tall stature Reduced body and facial hair growth
Klinefelter syndrome
Turner syndrome
45, X Karyotype The only monosomy compatible with life 98% of the fetuses are spontaneously aborted Female in appearance Absence of ovaries (gonadal dysgenesis) Short stature webbed neck lymphedema of the extremities skeletal deformities broad chest with widely spaced nipples
Female in appearance Absence of ovaries (gonadal dysgenesis) Short stature webbed neck lymphedema of the extremities skeletal deformities broad chest with widely spaced nipples
Turner syndrome
Triple X syndrome (47 XXX)
Girls that have problems with speech and self-esteem.
Microcephaly
Intellectual disability
congenital heart disease
Deletion of the short arm of chromosome 5: Cri du chat syndrome
Cri du chat syndrome
Microcephaly
Intellectual disability
congenital heart disease
Cat-like cry
microdeletion of the long arm of chromosome 15 (15q) on the maternal chromosome
Angelman's syndrome Intellectual disability Can't speak Poor motor- development prone to unprovoked periods of laughter
microdeletion of the long arm of chromosome 15 (15q) on the paternal chromosome
Prader Willi syndrome Hypotonia obesity intellectual disability hypogonadism undescended testes
Intellectual disability
Can’t speak
Poor motor- development
prone to unprovoked periods of laughter
Angelman’s syndrome
microdeletion of the long arm of chromosome 15 (15q) on the maternal chromosome
Hypotonia obesity intellectual disability hypogonadism undescended testes
Prader Willi syndrome
microdeletion of the long arm of chromosome 15 (15q) on the paternal chromosome
Lissencephaly
developmental delay
seizures
cardiac and facial abnormalities
Miller- Dieker Syndrome
Deletion 17p13
palatal defects cronotruncal heart defects Speech delay Learning disorders Schizophrenia-like disorder
Miller- Dieker Syndrome (Most common)
Deletion 22q11
Fragile X syndrome
Intellectual disability Large ears Prominent jaw Large testes 1 per 5,000
Intellectual disability
Large ears
Prominent jaw
Large testes
Fragile X syndrome
