Chromosomopathy part 2

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.