Shield chest, webbed neck, short stature, primary amenorrheaexcessive arm angling
Signs and sx of Monosomy X
XO Syndrome, TS, Bonnevie-Ulrich Syndrome, Ulrich-Turner Syndrome
Other names for Turner syndrome
Common systemic signs of monosomy x/turner syndrome
Streak Ovaries at the end of childhoodCHD (***COARCTATION OF THE AORTA)****Horseshoe kidneyHypogonadism
Abnormal labs in Turner Syndrome
ABSENCE OF BARR BODIES in a buccal smear for phenotypic female elevated fash and lhdecreased serum estrogen(Opposite of klinefelter's for phenotypic female)
Partial 4p monosomy
Wolf Hirschhorn syndrome
5P deletion syndrome
Cri du chat syndrome
Failure to thrive, hypotonia, mental retardation, talipes equinnovarus, asd, vsd, dextrocardia
signs of wolf hirschhorn syndrome
talipes equinnovarus
club foot
Sequalae of wolf hirschhorn syndrome
chronic seizuresscoliosis
4 wolves attack you and you have to wear a greek helmet and attack with a golf club
wolf Hirschhorn syndrome saying
high pitched cryshort 3,4,5 metacrapalsand long 2,3,4,5 pahlanages (short palm, long fingers)Congenital heart disease
Cri Du Chat Syndrome sx
Cri du chat genetics
deletion of 5p de novo
sequalae of cri du chat
Dependent on the severity of the congenital heart disease; can survive for decades with rudimentary social skills
Robertsonian translocation
Translocation in which the long arms of two acrocentric chromosomes become joined to a common centromere, resulting in a chromosome with two long arms and usually another chromosome with two short arms.
5p deletion mosaicism
arises during embryogenesisameliorated pheonotype
balanced translocation
a translocation, such as a reciprocal translocation, in which the total amount of genetic material is normal or nearly normal
unbalanced translocation
Translocation in which only part of a reciprocal translocation (and one of the nontranslocated chromosomes) is inherited from one of the parents.