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Thompson and Thompson > Chap 14: Developmental Genetics and Birth Defects > Flashcards

Chap 14: Developmental Genetics and Birth Defects Flashcards

1
Q

Craniosynostosis

proptosis

large toes turned inward

thumbs point away

cloverleaf skull

A

Pfeiffer syndrome

  • FGFR1* - mild
  • FGFR2* - mild to severe

Gain of function mutations

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2
Q

Craniosynostsis

toes everted

TWIST

Loss of function mutation

A

Sarthre-Chitzen Syndrome

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3
Q

Craniosynostosis

fusion of metacarpels and metatarsal bones

most common syndromic craniosynostosis

p.Pro250Arg

A

Muenke Syndrome

Autosomal dominant- variable phenotype

FGFR3

Hearing loss in 72%

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4
Q

Bilateral coronal synostosis

brachycephaley

synostosis of the fingers and toes

A

Apert Syndorme

FGFR2

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5
Q

Craniosynostosis

Normal Intelligence

A

Crouzon Syndorme

FGFR2

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6
Q

X linked

Craniosynostosis

+/- cleft lip

females more severly affected than males

A

Craniofrontonasal Syndrome

EFNB1

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7
Q

What is exclusive about de novo fibroblast growth factor receptor mutations

A

Paternal origin

increases with paternal age

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8
Q

Defect of the developing forbrain

prosencephalon

A

Holoprosencephaly

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9
Q

Period of development when holoprosencehphaly takes place

A

gastrulation

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10
Q

Single central inciser

A

Holoprosencephaly

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11
Q
  • SHH*
  • ZIC2*
  • SIX3*
  • TGIF*
  • FGFR1*
A

Most common genes associated with holoprosencephaly

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12
Q

Most common envoronmental/maternal factor associated with holoprosencephaly

A

Uncontrolled DM

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13
Q

Birth Defect

caused by external mechanical forces

mechanical stress

low recurrance risk

usually in the last trimester

A
  • Deformations
  • Ex. Twins
  • Uterine abnormality
  • Reduced amniotic fluid
  • Potter sequence
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14
Q

Birth defect

occurs in structure that were forming normally

extrinsic breakdown

A
  • Disruptions
  • Amniotic band
  • Limb-body wall complex
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15
Q

Birth Defect

abnormal celllular orginization and function

involves one tissue type

A
  • Dysplasia
  • ex: ectodermal dysplasia
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16
Q

Birth Defect

Abnormal development

permanat change

intrinsic abnormality

can involve multiple tissue types

A

Malformations

cleft lip and palate

holoprosencephaly

17
Q

Birth Defect

localization of multiple defect

develop from same embryonic field

A
  • Complex
  • Example: OEIS complex (Ompalocele-Exstrophy-Imperforate Anus-Spinal defects)
  • Example: Pentalogy of Cantrell: Inferior sternal defect, anterior diaphragmatic defect Ompalocele cardiac defect
18
Q

recognizable pattern with a predictable natual history

A

Syndrome

19
Q

Pattern of anomalie

result from a single identifiable event

A
  • Sequence
  • Ex: Potter sequence–> Low amniotic fluid
  • Pierre-Robin Sequence–>Early mandibular hypoplasia–>posterior displacement of tough–>cleft palate
  • Poland Sequence–>Hypoplasia of the pectoralis major muscle secondary to a vascular disruption
20
Q

phenotypic similarities

distinct mutation or different genetic mechanism

A

Heterogeneity

21
Q

Multiple phenotypic (organs) effected

single gene alteration

effects are not obvious

A

Pleitrophy

ex: charge syndrome, pancreatic insufficiency in CF

22
Q

Radial Ray Defects

increase risk for AML, Myelodysplastic syndrome

A

Fanconi Anaemia

23
Q

Radial ray defects

upper limbs

Heart : VSD, ASD, conduction defects

thumbs: absent, small or triphalangeal, bifid

phocomelia

A

Holt-Oram Syndrome

Autosomal dominant

TBX5

24
Q

Radial Ray defects

1q21.1 microdeletion

preservation of thumbs

A

TAR

Thrombocytopenia abcent radius syndrome

RBM8A

25
Q

Radial Ray defect

Red cell aplasia

A

Diamond-Blackfan Anaemia

26
Q

Radial ray defects

anal atresia

thumb abnormalities

A

Townes-Brock syndrome

Autosomal dominant

SALL1

27
Q

Central or postaxial polydactly

hypothalamic harmartoma

bifid epiglottis, laryngeal cleft, pulmonary segmentation anomalies

A

Pallister-Hall

  • GLI3*
  • A*utosomal recessive

frameshift/nonsense truncation mutations

3’ of zinc finger to codon 1161, repressor

28
Q

Preaxial polydactyly of feet

postaxial polydactyly of hands

macrocephaly, wide spaced eyes, broad nasal root

A

Greig cephalopolysyndactyly

5’ or inclusive zinc finger domain

Autosomal dominant

29
Q

preaxial polydactyly of the feet

post axial polydactyly of the hands

macrocephaly

wide spaced eyes

broad nasal root intellectual disability

Seizures

A

Greig cephalopolysyndactly contiguous gene syndrome

deletion in chromosome 7(p13–p14).

Thompson and Thompson (9 decks)

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