6 most common aneuploidy

Trisomy 13 (Patau syndrome) Monosomy X (Turner syndrome) Trisomy 21 (Down syndrome)

Trisomy 13 (Patau syndrome)

look similar to trisomy 18. Needs amnio. Difference is meiosis 1 not 2 like Edwards. Advanced maternal age. Encephyle. Cleft lip and palate, overlapping fingers, polydactyly, congenital heart defects and renal issues.

Monosomy X (Turner syndrome)

50% mosaic, isochromosomes are common etiology. 78% paternal sperm lacking X 22% maternal. 98% early miscarriage. Horseshoe kidneys, coerction of aortic issue. Streak gonads (non-functional fibrous tissue).

Trisomy 21 (Down syndrome)

Meiosis1 and maternal. 95% nondisjunction, 3% , 2% mosaic. Majority miscarry, ultrasound findings (increased nuchal translucency/fold, absent nasal bone but this can be ethnic too, Echogenic cardiac focus/bowel, duodenal atresia, leukemia risk).

Trisomy 18 (Edwards syndrome)

increased maternal age, issue meiosis 2, rocker bottom feet, nuchal translucency, clenched fists, crossed fingers, cord plexus cysts, cardiac defects and omphalocele.

XXY (Kleinfelter syndrome)

85% full non-mosaic. Can be related to advance maternal age. IVF risk. No prenatal findings. Tall stature, can have infertility. Learning disabilities. Gynecomastia. Large breast tissue (all male presenting).

digenic, partial hydatidiform mole, diploid egg, small growth. Di spermic di __, diploid one sperm fertilizes empty ovum and duplicates. 1-3 % of pregnancies. Some cases where baby survives to term but it’s very rare. Usually miscarriage.

4 common imprinting disorders

Russel silver Beckwith Weiderman Angelman Prader Willi

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Diseases for boards

Question	Answer
6 most common aneuploidy	Trisomy 13 (Patau syndrome) Monosomy X (Turner syndrome) Trisomy 21 (Down syndrome)
Trisomy 13 (Patau syndrome)	look similar to trisomy 18. Needs amnio. Difference is meiosis 1 not 2 like Edwards. Advanced maternal age. Encephyle. Cleft lip and palate, overlapping fingers, polydactyly, congenital heart defects and renal issues.
Monosomy X (Turner syndrome)	50% mosaic, isochromosomes are common etiology. 78% paternal sperm lacking X 22% maternal. 98% early miscarriage. Horseshoe kidneys, coerction of aortic issue. Streak gonads (non-functional fibrous tissue).
Trisomy 21 (Down syndrome)	Meiosis1 and maternal. 95% nondisjunction, 3% , 2% mosaic. Majority miscarry, ultrasound findings (increased nuchal translucency/fold, absent nasal bone but this can be ethnic too, Echogenic cardiac focus/bowel, duodenal atresia, leukemia risk).
Trisomy 18 (Edwards syndrome)	increased maternal age, issue meiosis 2, rocker bottom feet, nuchal translucency, clenched fists, crossed fingers, cord plexus cysts, cardiac defects and omphalocele.
XXY (Kleinfelter syndrome)	85% full non-mosaic. Can be related to advance maternal age. IVF risk. No prenatal findings. Tall stature, can have infertility. Learning disabilities. Gynecomastia. Large breast tissue (all male presenting).
Triploidy	digenic, partial hydatidiform mole, diploid egg, small growth. Di spermic di __, diploid one sperm fertilizes empty ovum and duplicates. 1-3 % of pregnancies. Some cases where baby survives to term but it’s very rare. Usually miscarriage.
1p36 del	1p36 del
5p del	5p del
Wagr-	11p del
Smith mcg	7.1p del
17q del	17q del
Wolf brush nomenclature	4p del
William syndrome nomenclature	7q113 del
Jacobson nomenclature	11q del
Hereditary neuropathy nomenclature	17p del
22q112 del
Charcot Marie Tooth 1A nomenclature	17p dup
Cat eye Syndrome nomenclature	221q dup
ID and epilepsy nomenclature	Mec p2 dup
4 common imprinting disorders	Russel silver Beckwith Weiderman Angelman Prader Willi
imprinting gene chromosomes	6, 7, 11, 14, 15, 16, 20
UPD is an error in...	Meiosis 1

Created by: hannahstevens

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