4. RESULTADOS
4.4. Educación bilingüe y biliteracidad
60
56
4
50
Xacrocentric
Ybj,armed
60
54
6
46
"60
54
6
46
"60
58
2
54
"60
54
6
46
"60
54
6
46
" 6058
2
54
"60
54
6
46
"60
5 5
5
48 "60
5 6
4
50
"60
57
3
52
"60
58
2
54
"60
54
6
46
"60
54
6
46
1 160
54
6
46
"60
58
2
54
" \..0 --..J( E
)
DogsC en t ri c f'u s i or. o f chromo s orn8s
has
b een o b s e rvedon
at
l eas t tllrue d.i fi'e:r·-:mt o c casi ons in the dog. '11vTO c a s e so f
apparent centri c fusi o::1 b ehreen t;-ro au tosomes have b een
repo:!:'ted
i n dogs wi th c ong�mi talabno rmo. l i. t i c s ( Shive $
Ha:ce and Pat t e rson ,1965;
Har e , Wi lkins on , hcFeely andRiser, 1967) and
a third cas e i n apheno tY]li ca l ly normal doe ( Jila and Gi lrnore,
1 971 )
.( iii )
RCBETI'J'SONI AY
TR/IJTS J,OC A TH JI;:3 tfJANThe
human
kary o type ha s b een s tud i ed mo r e ext ensiv ely than that of any o tbel' marcma l . Much o f thi s s tuQy has b eenprompted by
th e v a ri e ty of c l i ni ca l condi t i ons :ff.'eg_uen tly found to b e a s s o c ia t e d vfi -t,h an abno rmal karyo type. R o b er t;;oni:':'.n trans l c ca ti on sare the mo s t conl!Lon typ e o f tran s l o c a t i on r epor ted j_n man
and
a:!:'ep
r
es ent inabout
0 . 5 p er cen t of the popu la t i on ( C ourt Bro>m ,1967).
The human karyo typ e contai ns only tl1 0 grou ps (
g
roup D and group G )of acro cent r i c chr omo some s ( '1 0 out of
a
to tal of46
chromos om es ) . I n c on trast t o the a c ro centri c chrom o s omes o f th e domestic animals , human acro centri c chrom o somes have vi sib l e s a t e ll i tes , b e lieved to consi st of eu chromatin , on their short arms ( Ferguson- Smi thand
Handmaker, 1 96 1 ; 1 963 ) . The c a t elli ted ch romo s o�e s o f rnQn a s s o ci a t e
short arm
to
short arm i n mi t o ti c metaphas
e preparati ons ( Fergu s on-Smi th and
Handiilaker, 1961 ; 1963;
C oh enand Shavr, 1967; Galperin,
1968;
C o oke ,1972)
and a l s o during mei o s i s ( Fergus on-Smi th ,1964).
From thi s ass o ciati on i t has b een sugees
t
ed that t hes e chromo somes are non-di s j uncti on pron e ( Ohno , Truj i llo , Kaplan and Kinos i ta ,1 961 ; Galperin, 1968)
and Ohno et al .(1 961 )
p o s tu lated that i n creas edsat elli te a s s o ciati on mi
g
ht a l so be r ebt orl fo th eformat i on
o ftran s lo ca.ti ona b e tween t h e a c r ocentri c chromosome s .
Breakages
could possib ly o ccur more easi ly i n the a t t enuated s econdary co nstri ction areas and t h e chance of a transloc ation o c cu rr.ing would. be grea t erif
the broken
ends of di fferent memb ers w ere i n proximityin
the nu c l eo lar regi on .Three types of Rob erts oniar" tr.::tn s l o cation have b e en repo rt ed i n man ; b eh1een memb ers o f the D group of chromo s omes
( 1 3, 1
t� an cl 15 )
D/ D o r t ( DqDq )b e tween memb ers o f the G group o f chromo somes ( 2 1 and 22 ) G/ G o r t ( 2 1 q22q ) an d
b etw een m emb ers of b oth groups D/ G o r t ( Dq Gq ) .
The D/D trans l o c a t i o n :!_ s th e mos t colli!lon , CJCC',; rring i n ab out on e in 1 , 000 adults in th e g eneral F'Pulati on
(Cou::.:-t
B rown :1 967 ) . I t i s a r.1etaccntri c t ranslocat i o n , fami lial a11cl c:arri ers of it produ c e o ffspring whi ch a re
either
n o rmal , balanced carri ers , or tri s omi c fo r a D group c h romo s om e . Apart from the tris omic stat e ( �ayl or , 1 9 68 ) there app ears to be li t t l e evi denc e o fpheno t ypi c abnormali ty in ba lanc ed D/D c arri ers . Individua ls 1·rho
are tri somi ::: for a D chromo s ome ei ther may b e aborted ( Lu cas , 1 96 9 ; Dhadi a l ,
I1achin
and Tait ,
1 970; Kaj i i , Ohama , Nii kavra Ferri er andAvi ra chan , 1 97 3 ) or b orn a live bu t vri th s ev ere congeni ta l mal formati ons ( Gi annelli , 1 96 5 ; C ourt Brown , 1 967 ; Tayl o r , 1 968 ) . Kj e s s le:r ( 1 964 ) o.es cribed a subferti l e man -vri th a D/D t rans l o cati on , but the ass o c i a t i on j_ f any wi th s t eri l i ty , was no t c lear .
Regular mongolism i n man i s as s o ci a t ed 1vi th the p r e s ence of an additi ona l acrocentri c chromo som e of the G group and i s referred t o a s tri s omy G o r tris omy 2 1 . I n thi s case the mon gol
has 47 chromo somes i nstead o f the normal 46 . Hovrever approximat e ly
two t o fi ve p e r c en t of a ll mongo l o i d i ndivi duals have 46 chrom o s omes
but carry the ex tra chromo s ome in the form o f a t ransl o c a t i o n . The c omm onest transl o c&tion i s b e t.1-r e en a m embe r of the D group and
chromosome 2 1 ( D/ G ) and l e s s frequent ly b e tween h1o group G
chromosomes .
Behv e en 2 5 and 5 0 p e r c ent o f trans l ocation mongo l s have i nh e ri ted the trans l o cati o n chromos ome from a parent ( Gi ann e l l i , Hamerton and. C a rt er , 1 965 ; C ourt Broim , 1 967 ) I·Ihi le in the r ecnai nder
the trans lo cati o n has ari s en d e n ovo . Th e parent in cases vihere the chi ld has inh eri ted th e trans l ocati o n chromosome, i s a