SEMIO TRIGGER CH5

ABNORMALITY PRSENT AT BIRTH

CONGENITAL

ABNORMALITY DUE TO DNA ALTERATION

GENETIC

HOMOZYGOUS

2 IDENTICAL ALLELES

HETEROZYGOUS

2 DIFFERENT ALLELES

DEVELOPMENTAL ALTERATION DURING GESTATION

TERATOGENESIS

GAIN/LOSS OF A CHROMOSOME

NUMERIC CHROMOSOMAL DISORDER

ANEUPLOIDY

ABNORMAL NUMBER OF INDIVIDUAL CHROMOSOMES

POLYPLOIDY

EXTRA COMPLETE CHROMOSOME SETS

2 TYPES DE STRUCTURAL CHROMOSOMIC DISORDER

DELETION / TRANSLOCATION

SI PERSONNE AVEC 69 CHROMOSOMES

POLYPLOIDY

NB° DE CHROMO° NORMAL

46

TRISO° 21

DOWN

18

EDWARD

13

PATAU

47 XXY

KLINEFELTER

45X0

TURNER

47 CHROMO° + EXTRA CHROMO° 21 →

DOWN

MICROCEPHALY + SYNDACTYLY

EDWARD

CLEFT LIP + POLYDACTYLY

PATAU

AFFECTS CONSECUTIVE GENERATIONS

AUTOSOMAL DOMINANT

QUEL % SI → AUTOSOMAL DOMINANT : 1 AFFECTED PARENT + 1 HEALTHY PARENT ?

50% RISK PER CHILD

HUNTINGTON ?

AUTOSOMAL DOMINANT

HEALTHY PARENTS → AFFECTED CHILD

AUTOSOMAL RECESSIVE

QUEL % SI → 2 PARENTS HEALTHY CARRIERS

25% HEALTHY / 25% AFFECTED / 50% CARRIERS

ALBINISM

AUTOSOMAL RECESSIVE

SI PARENT : AFFECTED RECESSIVE + HEATHY HOMOZYGOUS QUEL % ?

0% AFFECTED / 100% CARRIERS

MALES AFFECTED MORE FREQUENTLY →

SEX / X LINKED

HEMOPHILIA

X LINKED RECESSIVE

GENES + ENVIRONMENTAL FACTORS

MULTIFACTORIAL

TERATOGENESIS DANS LES 2 WEEKS APRES FERTILIZATION ?

MAY RESULT IN ABORTION

TERATOGENESIS JOUR 15-60 ?

ORGANOGENESIS

CRITICAL PERIOD DE LA TERATOGENESIS ?

DURANT LES 3 PREMIERS MOIS

4 FACTEURS QUI CAUSENT TERATOGENESIS →

RADIATION

DRUGS → ALCOOL / WARAFARIN

VIRUS → CMV / HSV

NON VIRAL → SYPHILIS / TOXOPLASMOSIS

MEDICAMENT LES + DANGEREUX PENDANT GROSSESSE SONT NOTÉS →

X

MEDICAMENT LES - DANGEREUX PENDANT GROSSESSE SONT NOTÉS →

A

MÉDICAMENT AVEC RISQUE FOETAL CONNU MAIS PEUT ETRE UTILISÉ SI NÉCESSAIRE EST NOTÉ →

D

THALASSEMIA

AUTOSOMAL RECESSIVE