embriología Flashcards
1
Q
Growth retardation Varying degrees of intellectual disability craniofacial abnormalities Epicantal folds small ears Flat facies Cardiac defects Hypotonia
A
Down’s syndrome
2
Q
Down’s syndrome
A
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.
3
Q
Intellectual disability congenital heart defects Low seat ears flexion of fingers and hands micrognathia renal anomalies syndactyly malformations of the skeletal system
A
Trisomy 18
4
Q
Trisomy 18
A
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
5
Q
Trisomy 13
A
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
6
Q
Intellectual disability Holoprosencephaly congenital heart defects deafness cleft lip and palate eye defects such as microphtalmia, anophtalmia and coloboma
A
Trisomy 13
7
Q
Klinefelter syndrome
A
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
8
Q
Only in males sterile testicular atrophy hyalinization of seminiferous tubules gynecomastia 47 chromosomes XXY Tall stature Reduced body and facial hair growth
A
Klinefelter syndrome
9
Q
Turner syndrome
A
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
10
Q
Female in appearance Absence of ovaries (gonadal dysgenesis) Short stature webbed neck lymphedema of the extremities skeletal deformities broad chest with widely spaced nipples
A
Turner syndrome
11
Q
Triple X syndrome (47 XXX)
A
Girls that have problems with speech and self-esteem.
12
Q
Microcephaly
Intellectual disability
congenital heart disease
A
Deletion of the short arm of chromosome 5: Cri du chat syndrome
13
Q
Cri du chat syndrome
A
Microcephaly
Intellectual disability
congenital heart disease
Cat-like cry
14
Q
microdeletion of the long arm of chromosome 15 (15q) on the maternal chromosome
A
Angelman's syndrome Intellectual disability Can't speak Poor motor- development prone to unprovoked periods of laughter
15
Q
microdeletion of the long arm of chromosome 15 (15q) on the paternal chromosome
A
Prader Willi syndrome Hypotonia obesity intellectual disability hypogonadism undescended testes
