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Genetica > Disomia Uniparental > Flashcards

Disomia Uniparental Flashcards

1
Q

Mental
Obesidad
Boca Carpa
Ojo almendrados
Hipogonadiso
Hipotonia

A

Sd Prader Willi

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2
Q

Sd prader willi

A

Gen SNPRN
Solo en varones
Delecion paterna 15q11

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3
Q

Disomia uniparental materna 15

A

Sd Prader Willi

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4
Q

Sd Prader Willi dx

A

Fish especificó
PCR metilada

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5
Q

DIF para alimentarse o de succión
Hiperfagia
A los 8 pierden saciedad
Delecion

A

Delecion de Novo paterna 15q11

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6
Q

Gen UbE3A

A

Sd Angelman

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7
Q

Delecion de Novo materna 15q11
Impronta mamá
Q disomia es??

A

Disomia uniparental paterna 15

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8
Q

La niña calmada

A

Convulsiones
Ataxia
Léxico
Mental retraso
Autismo déficit social
Deformidad craneal microcefalia
Alegre

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9
Q

Fascinación por el agua y dx

A

Sd de angelman
Dx fish especificó
PCR metilada

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10
Q

Cromosoma 11p15 heredadas del padre
Disomia uniparental paternal

A

Sd de beckwith wiedeman

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11
Q

IGF2 alta
Gen CDKN1C región ICR2

A

Sd beck

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12
Q

Macroglasia
Muescas o pits en helix de la oreja
Onfalocdle
Gastrosquisis
Macrosomia
Hipoglucemia neonatal

A

Sd beck

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13
Q

Tumor embrionario
Hephiperlasia
Hipoglucemia neonatal
Hipermetilacion
Pseudo microcefalia

QUE DISOMIA ES??

A

Disomia uniparental paternal 11p15

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14
Q

Sd beckwith criterios mayores

A

Macroglasia
Muescas o pits en helix de la oreja
Gastrosquisis
Macrosomia

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15
Q

Sd beck criterios menores

A

Polihidramnios
Nevus flammeus mancha roja, frente y párpado

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16
Q

Sd beck dx

A

Dx MLPA, southern Blot, PCR metilada

17
Q

Sd silver russel que tipo de disomia
Cromosoma

A

Duplicaciones del cromosoma 11p15 materna
Disomia uni parental. materna cromosoma 11

18
Q

Fascia triangular
Clinodactilia 5to dedo
Retraso crecimiento
Frente amplia
Labios delgados

A

Sd silver russel

19
Q

Asimetría corporal
Pseudohidrocefalia
Hipometilacion ICR1
Gen H19 x duplicación
Peso bajo al nacer

A

Sd silver russel

Genetica (16 decks)

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