Syndromes Flashcards
Maternally inherited (mitochondrial) - progressive loss of mental and movement abilities typically resulting in death within 2-3 years
Leigh Syndrome
MELAS
Mitochondrial Encphalopathy, Lactic Acidosis and Stroke-like Episodes
MERRF
Myoclonic Epilepsy with ragged red fibers (Mitochondrial inheritance)
LHON
Leber Hereditary Optic Neuropathy (Mitochondrial Inheritance)
Del 4p16, Characteristic Facial Appearance -Wide Spaced eyes, prominent nose, delayed growth and development, intellectual disability, sezures
Wolf Hirschorn Syndrome
Del 5p, Distincitve high-pitched cry, intellectual disability and delayed dev. , distinctive facial features incl. widely set eyes (hypertelorism), low-set ears, a small jaw and a rounded face
Cri du Chat Syndrome
Facial features: Underdeveloped chin, low-set ears, wide-set eyes, narrow groove in the upper lip
Variable clinical effects include: Cardiac defects, poor immune system function, cleft palate, complications related to low levels of calcium in blood, delayed development
22q deletion syndrome, Di George, VCFS
Found in Bone marrow cells in Chronic Myeloid Leukaemia. 46, XY, t(9:22) (q34.1;q11.2)
Philadelphia Chromosome
Trisomy 21, poor muscle tone in tongue, epicanthic folds, single palmar crease, cardiac defects, intestinal stenosis, >40 years Alzheimer’s, Intellectual Disability
Down’s Syndrome
Microdeletion, 1.5 Mb 7q11.23
Williams-Beuren Syndrome
Trisomy 18. Prominent Occiput, rocker-bottomed feet, overlapping fingers, profound devleopmental delay, 90% mortality within first 2 years
Edward Syndrome
Trisomy 13. Microlpthalmia, cleft lip & palate, post axial polydactyly. 10% survive past 1 year. Severe psychomotor developmental delay
Patau Syndrome
45,X. Webbed neck, short stature, coarctation of aorta, streak ovaries, infertility, amenorrhea, broad chest and widely-spaced nipples, peripheral lymphoedema at birth, only viable monosomy
Turner Syndrome
47,XXY. Tall stature, Gynaecomastia (30%), High-pitched voice, reduced body and facial hair, Hypogonadism, usually diagnosed because of infertility
Klinefelter Syndrome
Missense mutation, glutamic acid to valine, 6th amino acid of normal B-globin chain
Sickle Cell Anaemia
Nonsense mutation, Stop codon UAG, p.gln39x
Beta-thalassemia
Stop Codons
UGA, UAG, UAA
35delG in connexin 26 gene, Frameshift deletion
Autosomal Recessive Congenital Deafness
DeltaF508
Non-frameshift deletion
Start of exon
GU
End of exon
AG
Menkes disease
Splice-site mutation
Loss of Function mutation, haploinsufficiency of LDL receptor, autosomal dominant, Chr 19p, xanthomas
Familial Hypercholesterolaemia
Dominant negative, Autosomal dominant, mutation n FBN1 gene on Chr 15, pleiotropy in CV, ocular, skeletal systems, missense mutations
Marfan Syndrome
Large head, prominent forehead, shortened limbs, normal IQ, mutation in FGFR3 gene on Chr4p, Gain of function mutation
Achondroplasia
Splice-site mutation, Autosomal dominant, 100% penetrance, variable expressivity, mutation in NF-1 tumor suppressor gene, Lisch nodules, Café au Lait spots, neurofibromas
Neurofibromatosis Type 1
