05-11-07-ALTERACIONES CONGENITAS
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Transcript of 05-11-07-ALTERACIONES CONGENITAS
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ALTERACIONES CONGENITAS
DRA BERTHA GHALLARDO JUGOINSTITUTO DE SALUD DEL NIÑO
HOGAR CLINICA SAN JUAN DE DIOS
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ANOMALÍAS CONGÉNITAS
0
10
20
30
40
50
60
Columnas 3D 1
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ALTERACIONES CROMOSOMICAS
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DESÓRDENES CROMOSÓMICOS
Se presentan en el 1% de los RN
El 15% de niños con malformaciones y / ó RM
Edad materna PUEDEN SER NUMÉRICAS
Y ESTRUCTURALES
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SINDROME DOWN
TRISOMIA DEL CROMOSOMA 21
MAL LLAMADO MONGOLISMO
CAUSA MÁS FRECUENTE DE RETARDO MENTAL DE CAUSA GENETICA
PREVALENCIA DE 1/700 RN VIVOS.
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SINDROME DOWN
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21
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INCIDENCIA DE S.DOWN Y EDAD MATERNA
EDAD MATERNA INCIDENCIA EDAD MATERNA INCIDENCIA
20 1/2000 - 35 1/350 21 1/1700 - 36 1/300 22 1/1500 - 37 1/250 23 1/1400 - 38 1/200 24 1/1300 - 39 1/150 25 1/1200 - 40 1/100 26 1/1100 - 41 1/80 27 1/1050 - 42 1/70 28 1/1000 - 43 1/50 29 1/950 - 44 1/40 30 1/900 - 45 1/30 31 1/800 - 46 1/25 32 1/720 - 47 1/20 33 1/600 - 48 1/15 34 1/450 - 49 1/10
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TRANSLOCACION ROBERTSONIANA
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NORMAL: = CROMOSOMA 21
TRANSLOCACIONROBERTSONIANA
TRANSLOCACIONY MEIOSIS
TRANSLOCACION
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MEIOSIS Y FERTILIZACION
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RIESGO DE RECURRENCIA
TIPO DE
TRANSLOCACION
ORIGEN
PARENTAL
RIESGO DE
RECURRENCIA %
13/21, 14/21, 15/21 MADRE
PADRE
10-15
3-5
21/22 MADRE
PADRE
10
2
21/21 MADRE
PADRE
100
100
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Trisomía 18 (Síndrome Edwards)
1/8000
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Síndrome de Edwards
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TRISOMÍA 13
1/25,000
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Trisomía 13 (Sindrome Patau)
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SINDROME DE TURNER
1/1500
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KLINEFELTER
1/1000 VARONES RN
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DELECIONES
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DELECIONES
SINDROME DE WOLF 4p-
SINDROME DE CRI DU CHAT 5 p-
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SINDROME DE CRI DU CHAT 5 p-
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ANILLOS
TRANSLOCACIONES
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MICRODELECIONES
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ardiac defects
bnormal facies
cell deficit/thymic hypoplasia
left palate/palatal dysfunction
ypocalcemia
Deleción 22q11
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Sindrome Di George Sindrome Shprintzen o Sd
Velocardiofacial Sindrome Takao o Anomalía
Conotruncal Cara Sindrome"Opitz" G/BBB Sindrome cardiofacial Cayler
CATCH 22 : FENOTIPOS
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SINDROME DE WILLIAMS
7q 11-23 elastina
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El diagnostico es clínico y se confirma con análisis cromosómico mediante la técnica de FISH
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DUPLICACIONES
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SINDROME DE KABUKI
8p22-p23.1
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ANILLOS
TRANSLOCACIONES
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ALTERACIONES GÉNICAS
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ESTRATEGIA DE MANEJONIVEL DE INTERVENCIÓN
TERAPIA GÉNICA
TRANSPLANTES
MODULACIÓN DE LA EXPRESIÓN GÉNICA
CONTROL DE LA ACTIVIDAD ENZIMÁTICA
FAMILIA
FENOTIPO CLÍNICO
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Alteraciones Génicas
DOMINANTES
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PADRE AFECTADO
MADRE NORMAL
HIJOS AFECTADOS HIJOS SANOS
RIESGO 50%
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HIPERCOLESTEROLEMIA FAMILIAR 1/500
HETEROCIGOTOS
19p13.1-p13.12
Mutación del receptor LDL
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NEUROFIBROMATOSIS 1Neurofibromina 17q11.2
1/3000 – 1/5000
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FGFR
ACONDROPLASIA
4P16
1/12-25,000
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OSTEOGENESIS IMPERFECTA
1/15,000
COL1 A1, COL1A2
17q21.3 7q22
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RETINOBLASTOMA
1/14,000 13 q11 AD
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MARFAN
FIBRILINA
15q21.1
1-10/100,000
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ALTERACIONES RECESIVAS
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Consanguinidad Existen cerca de 626 genes
asociados a enfermedades frecuencia de 2.5 /1000
nacidos
ALTERACIONES RECESIVAS
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Riesgo de recurrencia el 25%
HIJO SANO HIJOS PORTADORES HIJO AFECTADO
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FIBROSIS QUISTICA FRECUENCIA 1/2000
EN CAUCÁSICOS, RARO EN ASIÁTICOS
ALTERACIÓN DEL RECEPTOR TRANSMEMBRANA
7 q31.2
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TAY SACHS
1/3000 en judíos Ashkenazi
Deficiencia de hexosaminidasa
15q23-q24 Lesión rojo cereza
en retina
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WERNIG HOFMAN
15q 12.2-q13.3
1/10-15,000 RN
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MUCOPOLISACARIDOSIS
4p16.1
1/25-100,000 RN variable
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MUCOPOLISACARIDOSIS
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ALTERACIONES LIGADAS AL X
Inactivación 40% de los RM ligado al X 0.5/1000 nacidos Existen 139
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INACTIVACION DEL X
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RECESIVAS LIGADAS AL X
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AUTOSOMICA RECESIVA LIGADAS AL X
• Las mujeres son portadoras y trasmiten la enfermedad a sus hijos varones.
• La descendencia del varón afectado hace a todas sus hijas portadoras y sus hijos son sanos ( reciben el cromosoma Y de su padre)
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HEMOFILIA
Xq27
1/10,000
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DISTROFIA MUSCULAR DE DUCHENNE
DISTROFIN 1/3000 - 1/3500
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CONDRODISPLASIA PUNTATA
ARSE Xp22
1/500,000 RN
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LIGADAS AL X DOMINANTE
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AUTOSOMICA DOMINANTE LIGADAS AL X
• Las mujeres lo padecen
• La mayoría es letal en varones
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SINDROME DE RETT
MECP2
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INCONTINENCIA
PIGMENTI
Xp11.21
Xq28
Rara
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RAQUITISMO HIPOFOSFATÉMICO
1/200,000 mutaciones
Xp22.1 –21.3
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ALTERACIONES MULTIFACTORIALES
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DEFECTOS DEL TUBO NEURAL
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PREVENCION PRIMARIA
ACIDO FOLICO 500 microgramos DIARIO
DESDE DOS MESES ANTES DE LA CONCEPCIÓN Y DURANTE TODO EL EMBARAZO
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PREVENCION NUTRICIONAL
COMER FRUTAS, VERDURAS Y CERELALES DURANTE LA ETAPA FÉRTIL DE LA MUJER
EQUIVALENTE A 40 MICROGRAMOS DE
ÁCIDO FÓLICO DIARIO
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Efectos fetales del alcohol
DEF ENZIMA ALCOHOL DESHIDROGENASA
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TERATÓGENOSENFERMEDADES MATERNAS
DIABETES 1/10 –1/20 adultos
FENILCETONURIA 1/5000- 1/200,000
este de europa RUBEOLA MATERNA
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ESPINA BIFIDA
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LIPOMENINGOCELE
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Síndrome fenilcetonuria materna
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FENILCETONURIA
1/10,000-20,000 nacidos vivos. Déficit o ausencia de la
fenilalanina hidroxilasa. Diagnóstico precoz antes del mes
de vida por tamizaje, permite prevenir las secuelas.
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Diagnóstico
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Efectos fetales de la rubeola
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OTRAS FORMAS DE HERENCIAS
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HETEROGENIEDAD ALELICA
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HETEROGENIEDADGENICA
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DISTROFIN
MEMBRANA CITOESQUELÉTICA
MATRIX EXTRACELULAR
LAMININA
SINTROPINAS
DISTROGLICANOS
INTERACCIÓN DEL DISTROFIN CON LAS MOLECULAS DEL SARCOLEMA
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Mitocondrial Raras Neuropatía óptica de
Leber (LHON) MELAS MERRF KSS/CPEO
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ZNF127
NDN
IC
SNRPN
UBE3A
GABRB3
GABRA5
GABRG3
P
HERC2
PRADER-WILLI ANGELMAN
CROMOSOMA 15, REGION q11-13
UBE3A
E6AP (proteina)
1/10,000-1/25,000
IMPRINTING
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SINDROME DE ALGELMAN
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IMPRINTINGANTICIPACION
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X FRAGIL
Frecuencia de 1/1,250
Prevalencia de mujeres portadoras es de 1/250-500 mujeres
7% de de varones con problemas de aprendizaje,
X q27
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CCGCCGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGG
CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
Isla CpG
Exon 1
Centrómero telómero
FMR-1
FMR-1
GEN FMRP
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DIAGNOSTICO PRENATAL METODOS NO INVASIVOS
METODOS INVASIVOS
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METODOS NO INVASIVOS TAMIZAJE DE MUJERES EN RIESGO *ALFAFETOPROTEINAS *ESTRIOL *GONADOTROFINA CORIONICA SUB UNIDAD BETA
* PROTEINA PLACENTARIA (PPP) ULTRASONOGRAFIA * TRANSLUCENCIA NUCAL >4 mm. * CARTILAGO NASAL AUSENTE
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TRANSLUCENCIA NUCAL
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CARTILAGO
NASAL
AUSENTE
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METODOS INVASIVOS
ESTUDIO DE LIQUIDO AMNIÓTICO
(12 SEMANAS ) ESTUDIO DE VELLOSIDADES CORIALES
( 8 SEMANAS)
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DIAGNÓSTICO MOLECULAR
HIPERPLASIA SUPRARENAL DISTROFIA MUSCULAR HEMOFILIA HUNTINGTON PKU FIBROSIS QUISTICA TALASEMIAS
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TERAPIA GENICA
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TERAPIA GÉNICA
ADENOSINA DEAMINADASA FIBROSIS QUISTICA ALFA 1 ANTITRIPSINA FACTOR VIII FACTOR IX MUCOPOLISACARIDOSIS HIPERCOLESTEROLEMIA FAMILIAR
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