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Genetic C onditions
Genetic C onditions Petra Mill er
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Pu b li s h e d in 2016 b y C a v en di s h S q u a r e Pu b li s hin g , LL C 243 5t h A v en ue , S ui t e 136, N e w Y o r k, NY 10016 C o p y r ig h t 2016 b y C a v en di s h S q u a r e Pu b li s hin g , LL C Fir s t E di t io n N o p a r t o f t hi s p u b lic a t io n m a y b e r ep r o d uce d , s t o r e d in a r et r ie va l sys t em, o r t ra n smi t t e d in a n y f o r m o r b y a n y m e a n se le c t r o nic, m e c h a nic a l , p h o t o co p y in g , r e co r din g , o r o t h er w i s ew i t h o u t t h e p r io r p er mi s sio n o f t h e co p y r ig h t o w n er . R e q ues t f o r p er mi s sio n s h o u ld b e addr es s e d t o P er - mi s sio n s, C a v en di s h S q u a r e Pu b li s hin g , 243 5t h A v en ue , S ui t e 136, N e w Y o r k, NY 10016. T e l (877) 980-4450; fax (877) 980-4454. W e bsi t e: c a v en di s h s q .co m i s p u b lic a t io n r ep r es en ts t h e o p inio n s a n d v ie ws o f t h e a u t h o r b a s e d o n hi s o r h er p er s o n a l exp er ien ce , k n o w le dg e , a n d r es e a r c h. e inf o r m a t io n in t hi s b o o k s er v es a s a g en era l guide o n l y . e a u t h o r a n d p u b li s h er h a v e u s e d t h eir b es t e o r ts in p r ep a r in g t hi s b o o k a n d di s c l a im li a b i li t y r i sin g dir e c t l y o r in dir e c t l y f r o m t h e u s e a n d a p p lic a t io n o f t hi s b o o k. CPS I A C o m p li a n ce I nf o r m a t io n: B a t c h #CW16CSQ A l l w e bsi t es w er e a va i l a b le a n d acc ura t e w h en t hi s b o o k wa s s en t t o p r es s. L i b ra r y o f C o n g r es s C a t a log in g-in-Pu b lic a t io n D a t a M i l ler , P et ra, a u t h o r . D o w n sy n dr o m e / P et ra M i l ler . p a g es cm. (G en et ic co n di t io n s) I n c l udes b i b liog ra p hic a l r ef er en ces a n d in dex. IS B N 978-1-5026-0938-0 (h a r dco v er) IS B N 978-1-5026-0939-7 (e b o o k) 1. D o w n sy n dr o m e . I. T i t le . R C571.M55 2016 616.85'8842dc23 2015023056 E di t o r i a l Dir e c t o r : D a v id M cN a m a ra E di t o r : Flet c h er D o y le C o p y E di t o r : N a t h a n H eide l b er g er A r t Dir e c t o r : J e r e y T a l b o t D esig n er : A l a n S li w in s k i S enio r P r o d uc t io n M a n a g er : J ennif er R y der -T a l b o t P r o d uc t io n E di t o r : R enni J o hn s o n P h o t o R es e a r c h: J8 M e di a e p h o t og ra p h s in t hi s b o o k a r e u s e d b y p er mi s sio n a n d t hr o ug h t h e co ur t esy o f: R ac h e l F ra n k/ F u s e/G et t y I m a g es, co v er ; M o n k e y B u sin es s I m a g es/S h u t t er s t o c k.co m, 5; J o hn M ini h a n/E v enin g S t a n d a r d/H u l t o n/G et t y I m a g es, 8; D o n M a s o n/B len d I m a g es/G et t y I m a g es, 11; D eA g os t ini/G et t y I m a g es, 13; H u l t o n A r c hi v e/G et t y I m a g es, 16; B io p h o t o A s s o ci a t es/S cien ce S o ur ce/G et t y I m a g es, 18; B o b o m a s/P o p p er f o t o/G et t y I m a g es, 20; S n a pga l ler i a/S h u t t er s t o c k.co m, 22, 24; FO X v i a G et t y I m a g es, 31; U ni t e d N e ws/P o p p er f o t o/G et t y I m a g es, 32; BS IP/UI G v i a G et t y I m a g es, 34; M o n k e y B u sin es s I m a g es/S h u t t er s t o c k.co m, 38; AP P h o t o/C hr i s O M e a ra, 41; M o n k e y B u sin es s I m a g es/S h u t t er s t o c k.co m, 43; E le o n o ra_os/S h u t t er s t o c k.co m, 47; J o va n M a n dic/S h u t t er s t o c k.co m, 50; CD C/Dr . C l a r k H e a t h, 53; T tsv/iS t o c k/in ks t o c k, 54. P r in t e d in t h e U ni t e d S t a t es o f A m er ic a
C ont ent s Intr oduction Chap ter 1 Right and W r ong Chap ter 2 Mist ak e in Meiosis Chap ter 3 A N eed f or Chang e Chap ter 4 Im pr o v ed En vir onment Chap ter 5 R apid Adv ancements Glossar y F or Mor e Inf or mation F or F ur ther R eading Selected Bibliogr aph y Inde x
Down Syndrome Intr oduction
T
he w a y i n w h ich so ciet y t r ea t s p e o p le w it h D o w n s y ndr o me h a s ch an g e d dr a s t ic a l ly i n t he l a s t six t y years . C h ildr e n w it h t he c o nd it io n ar e r a ise d a t ho me i n s t ead of i n i n s t it u t io n s . e y so met i mes a t t e nd pub l ic scho o ls . Whe n t he y g r ad u a t e, t he y l iv e o n t hei r o w n and nd j o bs . e mov e i n t o t he m a i n s t r eam of l ife h a s m ade p e o p le w it h D o w n s y ndr o me m uch mo r e v isib le. Y ou h a v e p r o b ab ly se e n a ch ild o r g r o w n - u p w it h D o w n s y ndr o me, a g e n et ic d i so r de r t h a t ae ct s p h ysic a l and me n t a l de v elo p me n t. B e c a u se it sho ws u p i n ou t w ar d fea t u r es s uch a s t he sh a p e of t he f ac e and t he head , p e o p le w it h D o w n s y ndr o me ar e ea s y t o r e c o g n ize. T e e n a g e rs and ad u l t s w it h D o w n s y ndr o me t e nd t o b e sho r t and hea v y , w it h t he b ack s of t hei r heads so me w h a t a t t e ne d . Visio n p r o b le m s ar e c o m mo n, and m an y ch ildr e n w it h D o w n s y ndr o me h a v e e yes t h a t ar e n t a l ig ne d p r o p e r ly . A lso, t he y sh ar e an a s so r t me n t of hea l t h p r o b le m s, s uch a s se r iou s hear t defe ct s . e B r it ish p h ysician J o h n Lan g do n D o w n (18281896), w ho desc r ib e d t he s y ndr o me i n 1866, w r ot e t h a t w he n p l ac e d
Introduction Childr en with Down syndr ome can be identied by the alignment of their eyes and the shape of their he ads, but they ar e also usually happy and gentle.
Down Syndrome side b y side, p e o p le w it h D o w n s y ndr o me lo o k l ik e me mb e rs of t he same f am ily . T o a de g r e e, t h is is t r ue. B u t, of c ou rse, p e o p le w it h D o w n s y ndr o me a lso r ese mb le me mb e rs of t hei r o w n f am il ies . e r e ar e me n t a l and e mot io n a l si m il ar it ies amo n g p e o p le w it h D o w n s y ndr o me a s w el l . A l t hou g h so me p e o p le w it h t he d iso r de r h a v e i n t el l ig e nc e w it h i n t he no r m a l r an g e, mos t h a v e so me i n t el le ct u a l d isab il it ies . B ot h ch ildr e n and ad u l t s w it h D o w n s y ndr o me t e nd t o b e h a p p y , g e n t le, fr ie nd ly , and ae ct io n a t e. D o w n s y ndr o me is c a u se d b y an e r r o r i n t he c o p yi n g of g e net ic m a t e r ia l w he n it is p a s se d fr o m p ar e n t s t o t hei r o s p r i n g . As a r es u l t of a g e net ic e r r o r , p e o p le w it h D o w n s y ndr o me h a v e an ex t r a c o p y of a c h r om o s om e i n m an y o r a l l of t hei r b o dy c el ls . T o lear n mo r e ab ou t t h is d iso r de r , scie n t is t s h a v e h ad t o u n lo ck so me of t he de e p es t m ys t e r ies of l ife. A mo n g t hese m ys t e r ies is ho w c el ls d iv ide fo r r e p r o d uct io n so t he mot he r and f a t he r each c an c o n t r ibu t e h a l f of t he ch ild s g e net ic m a t e r ia l . O nc e t h is w a s lear ne d , u nde rs t and i n g of t h is g e net ic d iso r de r g r e w r a p id ly . is is t he s t o r y of t he o n g o i n g sear ch fo r an sw e rs t o t h is g e net ic puz z le and of t he ch an g es i n t he l iv es of p e o p le l iv i n g w it h D o w n s y ndr o me.
