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Phase 3a > CONGENITAL SYNDROMES > Flashcards

CONGENITAL SYNDROMES Flashcards

1
Q

WHAT IS THE GENETIC ABNORMALITY WHICH CAUSES DOWNS SYNDROME

A

TRISOMY 21

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2
Q

WHAT ARE THE CYTOGENETICS OF DOWNS SYNDROME

A

NON DYSJUNCTION

TRANSLOCATION

MOSIASISM

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3
Q

WHAT ARE RISK FACTORS WHICH COULD PREDISOPOSE YOU TO HAVING A CHILD WITH DOWNS

A

ADVANCED MATERNAL AGE

CARRIERS OF GENETIC TRANSLOCATION

ALREADY HAVING ONE CHILD WITH DOWNS

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4
Q

WHAT ARE COMPLICATIONS OF DOWNS SYNDROME

A

ATRIOVENTRICULAR SEPTAL DEFECT (CHD)

RENAL ABNORMALITIES

EARLY ONSET ALZIEMERS

HYPOTONIA

HIRSPRUNGS AND DUODENAL ATRESIA

LEARNING AND BEHAVIOURAL DIFFICULTIES

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5
Q

HOW DO YOU SCREEN FOR DOWNS SYNDROME

A

1ST TRIMESTER COMBINED TEST

  • HCG, PREGNANCY ASSOCIACTED PLASMA PROTEIN A
  • NUCHAL TRANSULUCENY SCAN

INTEGRATED SCREENING TEST

  • 1ST TRIMESTER COMBINED TEST
  • +/- QUADRUPLE SCREEN:
  • MEASURING ALPHA FETOPROTEIN, ESTRIOL, HCG, INHIBIN A
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6
Q

HOW DO YOU DIAGNOSE DOWNS SYNDROME

A

CHORNONIC VILLUS SAMPLING

  • WEEKS 10-13

AMNIOSCENTESIS

  • WEEKS 15
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7
Q

WHAT IS KLEINFELTERS SYNDROME

A

XXY

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8
Q

WHAT IS THE PRESENTATION OF KLEINFELTERS SYNDROME

A

INFERTILITY

HYPOGONADISM

GYNECOMASTIA

TALL

BEHAVIOURAL AND LEARNING DISORDERS

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9
Q

HOW DO YOU DIAGNOSE KLEINFELTERS SYNDROME

A

USUALLY WHEN INVESTIGATING DELAYED PUBERTY

  • BLOODS: DECREASED TESTOSTERONE
  • KARYOTYPE TESTING
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10
Q

HOW DO YOU MANAGE KLIENFELTERS SYNDROME

A

TESTOSTERONE

IVF

PSYCHOLOGICAL THERAPY AND EDUCATIONAL SUPPORT

IF GYNECOMASTIA DOESNT RESOLVE WITH TESTOSTERONE THEN BREAST REMOVAL

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11
Q

WHAT IS TURNERS SYNDROME

A

45 X

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12
Q

WHAT IS THE PRESENTATION OF TURNERS SYNDROME

A

SHORT STATURE

DELAYED PUBERTY

NORMAL INTELECT

NEUNATAL LYMPHADENOPATHY

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13
Q

WHAT COMPLICATIONS CAN ARISE DUE TO TURNERS SYNDROME?

A

INFERTILITY

COARCTATION OF THE AORTA (CHD)

RENAL ABNORMALITIES

OTITIS MEDIA

HYPOTHYROIDISM

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14
Q

WHAT IS THE MANAGEMENT OF TURNERS SYNDROME?

A

GROWTH HORMONE REPLACEMENT

  • SOMATOTROPHIN

HRT

  • OESTROGEN

IVF

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15
Q

HOW IS TURNERS SYNDROME IDENTIFIES

A

ABNORMALITIES NOTED ON FETAL US

  • CHD, RENAL, LYMPHADENOPATHY

SLOW GROWTH RATE AS CHILD

ABNORMAL APPEARENCE

  • WEBBED NECK, BROAD CHEST, WIDE SPACED NIPPLES

DELAYED PUBERTY

KARYOTYPE TESTING

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16
Q

WHAT IS ANGELMANNS SYNDROME

A

LACK OF CHROMOSOME 15 VIA MATERNAL SIDE AFFECTING THE NERVOUS SYSTEM

AKA HAPPY PUPPET SYNDROME

17
Q

WHAT IS THE CYTOGENETICS OF ANGELMANNS

A

DE NOVO DELEION

UNIPARENTAL DISOMY

18
Q

WHAT IS THE PRESENTATION OF ANGELMANNS

A

SEVERE COGNATIVE IPAIREMENT

ATAXIA

EPILEPSY

XS LAUGHTER AND HAPPINESS

INCREASED APETITE

ABNORMAL APPEARENCY

  • MICROCEPHALY, WIDE MOUTH, TAPERED FINGERS AND BROAD THUMBS
19
Q

HOW DO YOU MANAGE ANGELMANNS

A

SaLT

PHYSIO

ANTICONVULSTANTS

VENTILATION IF TEHY HAVE SLEEP APNEOA

20
Q

HOW DO YOU DIAGNOSE ANGELMANNS

A

DIAGNOSED THROUGH PRESENTATION IN INFANCY AND CHILDHOOD

KARYOTYPE TESTING

21
Q

WHAT IS DUCHENNES MUSCULAR DYSTROPHY

A

X LINKED RECESSIVE DISORDER WITH PROGRESSIVE MUSCLE DEGENERATION

22
Q

DESCRIBE THE PATHOPHYSIOLOGY OF DUCHENNES MUSCULAR DYSTROPHY

A

DECREASED DYSTROPHIN

  • DYSTROPHIN HELPS CONNECT MUSCLE FIBRES TOGETHER

MYOFIBRIN NECROSIS

  • INCREASED CREATININE KINASE
23
Q

WHAT IS THE PRESENTATION OF DUCHENNE MUSCULAR DYSTROPHY?

A

WADDLING GAIT

+/- LANGUAGE DELAY

PRESENTING <5Y

CALF PSEUDOHYPERTROPHY

24
Q

WHAT IS THE MANAGEMENT OF DUCHENNES MUSCULAR DYSTROPHY

A

PHYSIO

NIGHT SPLINTS TO STRETCH CONTRACTURES ESP. ANKLES

TRUNCHEAL BRACE

METAL BARINSERTED INTO SPINE

OVERNIGHT CPAP

PREDNISOLONE 10DAYS A MONTH

25
Q

WHAT IS WILLIAMS SYNDROME

A

A SPONTANEOUS MICRODELETION CAUSING BEHABIOURAL AND EDUCATIONAL DIFFICULTIES

26
Q

WHAT ARE COMPLICATIONS OF WILLIAMS SYNDROME

A

SUPRAVENTRICULAR AORTIC STENOSIS (CHD)

MODERATE LEARNING AND BEHAVIOURAL DIFFICULTIES

27
Q

WHAT IS FRAGILE X

A

AN X LINKED RECESSIVE DISORDER CAUSING LEARNING DIFFICULTIES

28
Q

WHAT ARE PRESTATIONS OF FRAGILE X

A

AUTISM

HYPERACTIVITY

SCOLIOSIS

JOINT LAXICITY

MITRAL VALVE PROLAPSE (CHD)

POST PUBERTAL MACROORCHIDISM

29
Q

WHAT ARE PHYSICAL FEATURES OF FRAGILE X (APPEARENCY)

A

MACROCEPHALYLONG FACE

LARGE EARS

PRIMINENT MANDIBLEBREAD FOREHEAD

30
Q

WHAT IS NOONE SYNDROME

A

A GENETIC DISORDER OF AUTOSOMAL DOMINANT INHERITANCE

CAUSING PSYSIOLOGICAL AND BEHAVIOURAL ISSUES

31
Q

WHAT IS THE PHYSIOLOGICAL PRESENTATION OF NOONE SYNDROME

A

TRIDENT POST. HAIRLINE

SHORT WEBBED NECK

PECTUS EXCAVATUM

32
Q

WHAT ARE COMPLICATIONS ASSOCUATED WITH NOONE SYNDROME

A

PULMONARY VALVE SRENOSIS (CHD)

FAILURE TO THRIVE

MILD LEARNING DIFFICULTIES

33
Q

WHEN IS NOONE DETECTED

A

1ST TRIMESTER SCREEN

34
Q

WHAT IS THE MANAGEMENT OF NOONE

A

BEHAVIOURAL AND EDUCATIONAL SUPPORT

SaLT

PHYSIO + OT - GROSS AND FINE MOTOR DELAYES

35
Q
A

Phase 3a (22 decks)

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