Klinefelter syndrome: 47XXY; tall, thin, GYNECOMASTIA, antisocial/aggressive behaviour, infertility/hypogonadism. Managed with testosterone. “K.L.I.N.E.” Killer (aggressive, antisocial) Large breasts Infertile Non disjunction Elevated (tall) b) Turner syndrome: 45X; short stature, webbed neck, broad chest; coarctation of aorta, streaked ovaries, infertility, lymphedema, cystic hygromas. Managed with growth hormone, estrogen. “T.U.R.N.E.R.” Tight aorta (coarctation) Undersized (short) Renal (horseshoe kidney) Nipples widely spaced Edema (lymphedema) Reproductive failure (infertile) c) Edwards syndrome: Trisomy 18; short stature, rocker-bottom feet, micrognathia, polydactyly; VSD, PDA, ASD, polycystic kidneys; 44% die in 1st month. “E.D.W.A.R.D.S.” Eighteen (trisomy) Digit overlapping flexion Wide head Absent intellect (mentally retarded) Rocker-bottom feet Diseased heart Small lower jaw (micrognathia) d) Prader-Willi syndrome: No paternal imprinted genes on 15q11; short stature, almond-shaped eyes, small hands and feet; hyperphagia, hypogonadism, developmental delay. “P.R.A.D.E.R.” Paternal (genes not imprinted) Runt (short) Almond eyes Delay (mental) Eats a lot Right heart failure e) Fragile-X Syndrome: CGG repeat on X chromosome; long & thin face, prominent jaw, high arched palate, macroorchidism; intellectual impairment. “F.R.A.G.I.L.E.” FMR1 gene Repetitive behaviour Anticipation (CGG repeats) Gnathism (protruding jaw) Intellectual impairment Large testes Everted ears PEARL: “K.L.I.N.E.”-felter - Killer (aggressive, antisocial), Large breasts (GYNECOMASTIA), Infertile, Non disjunction (47XXY), Elevated (tall).
Posted on: Tue, 02 Sep 2014 08:26:03 +0000