Term
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Definition
47,XY,+21
1/800-1/1000
Upslanting palpebral fissures, low nasal bridge, hypotonia, varying levels of mental retardation, duodenal atresia, structural heart defects (AV canal)
Likely to have early Alzheimer's (APP) and mental retardation (DYRK1A)
Caused by meiotic nondisjunction, and sometimes chromosome translocation |
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Term
| Trisomy 18/Edwards Syndrome |
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Definition
1/6000
Prenatal growth deficiency, small mouth, index overlaps middle finger, congenital heart defects (VSD), omphalocele, diaphragmatic hernia, developmental disabilities |
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Term
| Trisomy 13, Patau Syndrome |
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Definition
1/10,000
Oral-facial clefts, microphthalmia, postaxial polydactyly, heart defects, renal abnormalities, CNS malformations |
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Term
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Definition
Female X monosomy
Gonadal dysgenesis, short stature (SHOX), broad shield-like chest, webbed neck, coarctation of the aorta |
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Term
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Definition
47 XXY
Mental retardation rare but lowered IQ usually, gynecomastia, tall with overly long arms and legs, infertile from seminiferous tubule atrophy, mitral valve prolapse |
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Term
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Definition
Microdeletion of 15q on paternal chromosome- maternal imprinting
Mental retardation, short stature, obesity, hypotonia, small feet
Obesity, short stature, mental retardation, gonadal dysgenesis |
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Term
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Definition
Microdeletion on 15q of maternal chromosome- paternal imprinting
Uncontrollable laughter, mental retardation, seizures |
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Term
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Definition
Microdeletion of 4p
Elastin (ELN) mutation for supravulvular aortic stenosis (SVAS), LIMK1 for visual-spatial deficits, dental malformations, hypercalcemia |
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Term
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Definition
Microdeletion of distal 4p
Far apart eyes, cleft palate |
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Term
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Definition
Microdeletion of distal 5p
Mental retardation, microcephaly, characteristic facial appearance |
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Term
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Definition
| Interchange of genetic information between nonhomologous chromosomes |
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Term
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Definition
Exchange a piece of one chromosome with a piece of another
This can cause trisomy or monosomy for particular parts of a chromosome in offspring |
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Term
| Robertsonian Translocation |
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Definition
The short arm is lost and the long arm of two chromosomes to make one chromosome, so the individual is 45 but has all genetic info
Occurs with acrocentric chromosomes: 13, 14, 15, 21, 22 |
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Term
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Definition
Type of robertsonian translocation when undergoing segregation: bad
Child will be monosomy or trisomy |
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Term
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Definition
Segregation for robertsonian translocation: good
Child will get either all genetic info on one chromosome, or will inherit both full chromosomes |
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Term
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Definition
22q11.2: neural crest cells don't migrate to the neck properly, possibly caused by mutations in TBX1 gene (subtelomeric rearrangement)
Functional or structural abnormalities for thymus, conotruncal heart defects, hypoparathyroidism, secondary hypocalcemia
Similar chromosomal abnormality as VCF
High incidence of psychological disorders |
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Term
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Definition
The offspring receives both copies of the chromosome from one parent
This can be caused by one gamete undergoing nondisjunction and the other having no chromosomes, or one being normal and the other having two from nondisjunction and when meiosis occurs gets rid of the single |
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Term
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Definition
Translocation of chromosome 22 goes on the long arm of chromosome 9 and some of 9 goes on 22 in Chronic Myelogenous Leukemia (CML)
ABL gene affected: increase tyrosine kinase activity and leads to hematopoietic cell malignancy |
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Term
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Definition
| Reciprocal translocation of 8 and 14 so MYC from 8 to 14 near immunoglobulin heavy chain loci, causing malignancy |
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Term
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Definition
| Reciprocal translocation of 8 and 14 so MYC from 8 to 14 near immunoglobulin heavy chain loci, causing malignancy |
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Term
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Definition
| One of the chromosomes gets left behind and out of the nucleus in either meiosis or mitosis |
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Term
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Definition
One arm of a chromosome is lost and the remaining arm is duplicated, resulting in two long arms only or two short arms only
- perpendicular division |
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Term
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Definition
| One who contains both ovarian and testicular tissue |
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Term
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Definition
| Disagreement between phenotypic sex and gonadal sex |
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Term
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Definition
Repeating trinucleotide sequence in noncoding regions; X-linked disorder, mutation in FMR1 gene (Xq27.3)
CGG repeat sequence, and expansion of the sequence past a certain threshold impairs function
Expansion occurs during oogenesis
males-Mental retardation, long face with large mandible, large everted ears, *large testicles/ macroorchidism |
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Term
| Leber Hereditary Optic Neuropathy |
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Definition
Mitochondrial mutation disorder
Neurodegenerative disease that manifests as a progressive bilateral loss of central vision |
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