Genetica at University of Aquila

Flashcards and summaries for Genetica at the University of Aquila

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Study with flashcards and summaries for the course Genetica at the University of Aquila

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Maschio di Klineferter

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Sindrome di Down

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Sindrome di Edwards
(Trisomia 18)
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Sindrome di Patau
(Trisomia 13)

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Trisomia 8 in mosaico

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Sindrome da 4p-

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Sindrome di Prader-Willi
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Sindrome di Angelman

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Sindrome di Williams

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Velo-cardio-facciale

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Corea di Huntington 
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Sindrome di Turner

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Exemplary flashcards for Genetica at the University of Aquila on StudySmarter:

Genetica

Maschio di Klineferter
Azoospermia per scleroialinosi dei tubuli seminiferi
Ginecomastia
Tessuto adiposo ginoide
Testicoli piccoli
Quoziente intellettivo basso senza ritardo mentale

Genetica

Sindrome di Down
Facies tipica
Ipotonia
50% cardiopatia congenita
Alzheimer dopo i 40 anni
X 10 rischio di leucemia

Genetica

Sindrome di Edwards
(Trisomia 18)
Grave ritardo psicomotorio e della crescita
Deformazione organi
Volto minuto
Microcefalia
90% di casi mortalità nel primo anno di vita (apnea centrale o cardiopatia)

Genetica

Sindrome di Patau
(Trisomia 13)
Labiopalatoschisi
Prosencefalia
Polidattilia
Convulsioni
Malformazioni degli organi interni
Ritardo psicomotorio
Mortalità entro un anno

Genetica

Trisomia 8 in mosaico
Dismorfismi facciali
Lieve ritardo mentale
Difetti urinari, scheletrici e cardiopatia
Agenesia del corpo calloso

Genetica

Sindrome da 4p-
Grave ritardo della crescita prenatale e postnatale
Faces ad elmo di guerriero
Ipotonia muscolare
Deficit cognitivo moderato/grave

Genetica

Sindrome di Prader-Willi
Microdelezione 15q11.2 crom. paterno

Grave ipotonia (parto cesareo tardivo, difficile deglutizione)
Carnagione chiara
Obesità dovuta ad ierphagia dopo il primo anno di età
Dolicocefalia
Ipogonadismo
Labbro superiore a tenda
Iperlassità legamentosa
Lieve ritardo psicomotorio

Genetica

Sindrome di Angelman
Delezione ne​​​​l cromosoma materno 15q11.2

Grave ritardo cognitivo con assenza di linguaggio
Epilessia infantile
Occhi strabici 
Microcefalia
Ilarità
Ipopigmentazione
Atassia

Genetica

Sindrome di Williams
Microdelezione 7q11.23 (gene elastina)

Iridi stellate
Dismorfia con telecanto
Carattere cocktail party
Ritardo mentale grave
Stenosi aortica sopravalvolare
Ipertensione precoce

Genetica

Velo-cardio-facciale
Microdelezione 22q11.2 (TBX1)

Ritardo mentale non grave con psicosi (+ rischio schizofrenia)
Anomalie facciali: epicanto, bocca aperta, orecchie antiverse/semplificate
Anomalie cardiache (tetralogia di Fallot)
Insufficienza velo-palatina
60% ipocalcemia neonatale

Sindrome di George (variante con aplasia timica)


Genetica

Corea di Huntington 
Gene IT15 (HTT) 4p
Premutazione 27-40
Affetto >41

Corea progressiva
Deterioramento mentale
Manifestazione in tarda età

Genetica

Sindrome di Turner
H < 140 cm
Infantilismo caratteri sessuali secondari
Amenorrea
Gonadi fibrose, ipoplastiche con assenza di follicoli
Anomalia scheletrica
20% cardiopatia congenita o rene a forma di cavallo

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