DERMATOGLYPHY

PEDIGREE
DERMATOGLYPHY
PEDIGREE
DERMATOGLYPHY
PEDIGREE
DERMATOGLYPHY
PEDIGREE
DERMATOGLYPHY
PEDIGREE
DERMATOGLYPHY
PEDIGREE


Dermatoglyphics
(from ancient Greek derma =
"skin", glyph = "carving")
is the scientific study of
fingerprints.


The term was coined by
Dr. Harold Cummins,
the father of American fingerprint
analysis,
even though the process of
fingerprint identification had already
been used for several hundred
years .


All primates have ridged skin,
and it can also be found on the
paws of certain mammals and
on the tails of some monkey
species.



In humans and animals,
dermatoglyphs are present on
fingers, palms, toes, and soles,
and give insight into a critical
period of embryogenesis,
between 4 weeks and 5 months,
when the architecture of the major
organ systems is developing.
DERMATOGLYPHICS

Analisis Sidik Jari
Galton; Pola : Arch, loop dan whorl
Lipatan germinal epidermis
Herediter
Terbentuk 12-19 minggu setelah konsepsi
Dipengaruhi gen, diterminasi kromosom besar
Dapat dipengaruhi penyakit (Rubella)
Diagnosa kelainan genetik :
Mutasi gen
Kelainan struktur kromosom
Embryopati (selama kehamilan)
Pola :
Arch : simple, tented
Loop : ulnar, radial, pheripheral dan
central
Whorl : konsentris, double loop, spiral,
komplek, lateral pocket, central pocket

Palmar
Triradius ;
A = 0 L = 1 W = 2; a, b, c, d dan t
Sudut atd : normal 0-14,9, 39,9
(besar)
Tinggi t D = h/l X 100%
h = t basis palmar, l = t basis digital
Abnormalitas alur :
aplasia, hypoplasia, disosiasi,
(parsial/ complete), distorsi.

Palmar crease
3 alur mayor :
distal transversal, proximal
transversal dan thenar.
SIMIAN CREASE (< 6%)
SYDNEY CREASE (<11%)
Transisional (1 dan 2)

Palmar crease
Hallucal :
Distal loop, whorl, tibial loop,
fibular loop, proximal
arch, tibiar arch, fibular arch.
Analisis : metoda Walker,
uppsala, Indiana University
Foundt.
Terutama untuk Simdroma Down
(Mongolism).


Unusual dermatoglyphic patterns
often relate to genetic disorders.

One study of foetuses with
chromosomal abnormalities
showed that the dermatoglyphic
patterns were delayed by more
than two weeks.

Trisomy 21 (Down syndrome):


People with Down syndrome have mainly ulnar loops, and a
significantly different angle between the triradia a, t and d (the
'adt angle').
Other differences often include a single transverse palmar
crease ("Simian line") (in 50%), and patterns in the
hypothenar and interdigital areas, lower ridge counts along
digital midlines, especially in little fingers, which corresponds
to finger shortening in those with Down's syndrome.

Trisomy 21 (Down syndrome):

There is less variation in dermatoglyphic patterns between
people with Down syndrome than between controls, and
dermatoglyphic patterns can be used to determine
correlations with congenital heart defects in individuals with
Down syndrome by examining the left hand digit ridge
count minus the right hand digit ridge count, and the
number of ridges on the fifth digit of the left hand.



Turner syndrome:


Predominance of whorls, although the
pattern frequency depends on the
particular chromosomal abnormality.

47, XXY (Klinefelter's syndrome):

Excess of arches on digit 1, more
frequent ulnar loops on digit 2, overall
fewer whorls, lower ridge counts for
loops and whorls as compared with
controls, and significant reduction of
the total finger ridge count.

Trisomy 13 (Patau
syndrome):



Excess of arches on
fingertips and single
transverse palmar creases in
60%.

Trisomy 18
(Edward's syndrome)


6 - 10 arches on fingertips and
single transverse palmar
creases in 30%.

Cri du chat (5p-):



Excess of arches on fingertips and
single transverse palmar creases
in 90%.

Noonan syndrome:


Increased frequency of whorls on
fingertips, and the axial triradius t,
as in Turner syndrome, is more
often in position t' or t" than in
controls.

References

1. ^ Fingerprint#History of fingerprinting for identification
2. ^ Shiono H (1986). "Dermatoglyphics in medicine". Am J Forensic Med Pathol 7
(2): 1206. PMID 2943156.
3. ^ Katznelson M, Goldman B (1982). "Fetal dermatoglyphics". Clin Genet 21 (4):
23742. PMID 6213324.
4. ^ Suzumori K (1980). "Dermatoglyphic analysis of fetuses with chromosomal
abnormalities". Am J Hum Genet 32 (6): 85968. PMID 6449865.
5. ^ Rajangam S, Janakiram S, Thomas I (1995). "Dermatoglyphics in Down's
syndrome". J Indian Med Assoc 93 (1): 103. PMID 7759898.
6. ^ Mglinets V (1991). "[Relationship between dermatoglyphic variability and finger
length in genetic disorders: Down's syndrome]". Genetika 27 (3): 5417. PMID
1830282.
7. ^ Mglinets V, Ivanov V. "[Bilateral symmetry of the dermatoglyphic characteristics
in Down's syndrome]". Ontogenez 24 (3): 98102. PMID 8355961.
8. ^ Durham N, Koehler J. "Dermatoglyphic indicators of congenital heart defects in
Down's syndrome patients: a preliminary study". J Ment Defic Res 33 ( Pt 4):
3438. PMID 2527997.
9. ^ Reed T, Reichmann A, Palmer C (1977). "Dermatoglyphic differences between
45,X and other chromosomal abnormalities of Turner syndrome". Hum Genet 36
(1): 1323. doi:10.1007/BF00390431. PMID 858621.
10. ^ Komatz Y, Yoshida O (1976). "Finger patterns and ridge counts of patients with
Klinefelter's syndrome (47, XXY) among the Japanese". Hum Hered 26 (4): 290
7. PMID 976997.
11. ^ Rott H, Schwanitz G, Reither M (1975). "[Dermatoglyphics in Noonan's
syndrome (author's transl)]". Acta Genet Med Gemellol (Roma) 24 (1-2): 637.
PMID 1224924
Analisis Pedigree


Probabilitas Keturunan
1. Banyaknya macam gamet 2
n

2. Banyaknya kombinasi (2
n
)
2

3. Banyak individu homozygotik
n

4. Banyaknya kombinasi :
1X3
2
: 2X3
1
: 1X3
0

Konstanta, Pascal, beda sifat
5. Probabilitas P
(X +Y) =
P
(X)
X P
(Y)

Binomial : (a + b)
n
a/b = peristiwa

Males are always represented by
square symbols, females with
circular symbols.

A line drawn between a square
and a circle represents a mating
of that male and female.
Two lines drawn between a square
and a circle indicate a
consanguineous mating, the two
individuals are related, usually
second cousins or closer relatives.

When possible, the square should be
placed on the left and the circle on
the right of the mating line.
Generations are connected by a
vertical line extending down from
the mating line to the next
generation. Children of a mating
are connected to a horizontal line,
called the sibship line, by short
vertical lines.
The children of a sibship are
always listed in order of birth, the
oldest being on the left.

Sometimes to simplify a pedigree
only one parent is shown, the
other is omitted.
This neither signifies
parthenogenic development nor
does it signify divinely inspired
conception, it merely means the
parent left out is not from the
family being studied and is
genotypically homozygous normal
for the trait being studied.
Normal individuals are
represented by an open square or
circle, depending upon the
gender, and affected individuals
by a solid square or circle. Each
generation is numbered to the left
of the sibship line with Roman
Numerals.
Individuals in each generation are
numbered sequentially, beginning
on the left, with Arabic Numerals.
For example the third individual in
the second generation would be
identified as individual II-3.
Autosomal Resesif
Albinisma : (aa) normal (AA atau Aa)
PKU : Phenylkhetonuria (pp) normal PP/Pp,
mempunyai timbunan phenylalanin hepar cacat
mental
Tirosinosis : (tt) normal (TT/Tt) tidak memiliki ez.
tirosinase kejang otot, gemetar, serangan jantung
Alkaptonuria : (hh) normal (HH/Hh), non ez asam
homogentisin oksidase ; urin coklat tua, nyeri sendi,
tdp bercak hitam di hidung, telinga dan bola mata.
Kretinisme : (cc) non tiroksin dan triioditironin
kerdil
Cystic Fibrosis : (cfcf), kelainan metabolisme
protein kerusakan pancreas dan pulmo, penyebab
sterilitas.
Normally one never
considers the possibility of
two unrelated individuals
both being carriers unless
there is evidence to the
contrary.

Here II-2 and II-1 are the
exception to the rule.
There is evidence that both
must be carriers.
Autosomal resessive
Pedigree
Autosomal Dominan
Achondroplasia (D) Dwarfism, kerdil, letalitet
ratio 1:1
Polydactyly (P) jari lebih
Brachydactyly (B) letalitet, jari pendek
Piebald spotting bercak-bercak melanin
PTC (Phenlthiocarbamida) taster/ non taster (tt)
Thalasemia (, , /F), kelainan darah, mayor-
minor, normal
Destinogenesis imperfecta (opalesen/ D) gigi
spt susu
Anonychia (An) non kuku jari tangan/ kaki
Retinal aplasia (Ra) buta (10% kebutaan)
Katarak (K)
Lekuk pipit, bengkok ibu jari, cuping, widows peak,
warna rambut.
The pattern of autosomal
dominant inheritance is perhaps
the easiest type of Mendelian
inheritance to recognize in a
pedigree. One dose of the mutant
gene, one mutant allele, is all that
is required for the expression of
the phenotype.
There are three reasons why an
individual with an autosomal
dominant disease should always
be considered as being a
heterozygote until proven
otherwise:

The disease is usually rare, with only
about 1/10,000 individuals affected as an
order of magnitude. To produce a
homozygote, two affected heterozygotes
would have to mate.

This probability is 1/1,000,000 and then
they would have only a 1/4 chance of
having a homozygous affected offspring.


Affected individuals are most
likely to come from affected by
normal matings. The normal
parent is homozygous recessive,
thus assuring that each product of
the mating has at least one
normal gene.


In the extremely rare instances
where two affected individuals
have mated, the homozygous
affected individuals usually are so
severely affected they are not
compatible with life.

The exceptions are the autosomal
dominant diseases caused by the
somatic expansion of trinucleotide
repeat sequences (e.g.,
Huntington's disease) that we will
study later.

The mating of very closely related
individuals, the most likely way for
two affected individuals to know
each other, is forbidden in our
society.

Karyotipe
Kromosom dalam pasangan homolog
Pada manusia :
22AAXX wanita 22AAXY Pria
(Denver 1960)
46, XX dan 46, XY (Paris, 1971)
Kromosom dikelompokkan menjadi 7
golongan A G (Denver, Patau)
Pola kromosom : Metasentrik,
Submetasentrik, Akrosentrik + satelit
Penomoran berurut dari kromosom 1
22 + sex kromosom
Karyotipe
Gol Group No Pola Kromosom
Sentromer Morfologi


A 1-3 1,3 median metasentrik
2 submedian submetastrk

B 4,5 4,5 submedian submetastrk
Karyotipe
Gol Group No Pola Kromosom
Sentromer Morfologi


X X submedian agak metastrik

C 6-12 6,7,9,11 submedian agak metastrik

8,10,12 submedian submetasentrik
Karyotipe
Gol Group No Pola Kromosom
Sentromer Morfologi


D 13-15 13,14,15 subterminal akrosentrik

E 16-18 16 median metasentrik

17, 18 submedian submetasentrik
Karyotipe
Gol Group No Pola Kromosom
Sentromer Morfologi


F 19-20 19, 20 median metasentrik

G 21-22 21, 22 subterminal akrosentrik+st

Y Y subterminal akrosentrik
Karyotipe
Kelainan kromosomal :
Syndroma Down ( 47,XX/ 47, XX-G)

Syndroma Turner ( 45, X0)
Syndroma Klinefelter (47,XXY/ 48 XXXY)
Syndroma E (Trisomi 18) ( 47,XX,E/
47,XY,E)
Syndroma D (Trisomi 13-15) (47,XX,D/
47,XY,D)
Syndroma XXY (47,XXY)
Syndroma XXX (47,XXX)
RESULT FLOURESCENT DYE
METAPHASE COLOR KARYOYPING