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Genetics Flashcards

(105 cards)

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1
Q

CHROMOSOME

A
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2
Q

Partial trisomy 10q

A

various renal anomalies
abnormal facies
microcephaly
limb, cardiac

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3
Q

Trisomy 8

A

Mostly mosaic, usually lethal in utero
Deep creases in palms/soles
Campotodactyly (flexion of PROX I/P joints)
Deep set eyes, cupped ears
ID

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4
Q

Trisomy 13

A

MIDLINE abnormalities
Cardiac VSD > PDA
Cutis aplasia
Polydactyly, narrow hyperconvex fingernails
Cleft lip, cleft palate, SMALL EYES, colobomas
Sloping forehead
GI - umb or inguinal hernia
GU - cryptorchidism, abnormal scrotum
Neuro - microcephaly, HOLOPROSENCEPHALY, seizures
Other - persistance fetal hemoglobin, increased neutrophils with nuclear projections
95% spont abortions, 90% die within 1st year

PATAU

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5
Q

Trisomy 18

A

Edward syndrome
F&raquo_space; M
Cardiac - VSD, PDA > bicuspid AV, pulm stenosis
Extremities - overlapping 2nd over 3rd or 5th over 4th fingers, CLENCHED HAND, hypoplastic nails, rockerbottom feet
Facial - micrognathia, small mouth, small eyes, small palpebral fissures, occipital prominence
GI - umb or inguinal hernia
GU - cryptorchidism
Neuro - hypertonia after NB period, narrow biparietal diameter, ID
Single umb artery, IUGR, short sternum
majority spont abortions; 50% mortality 1st year of life

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6
Q

Trisomy 21

A

extra chromosome mostly maternal, due to nondisjunction
50% CV - endocardial cushion defect > VSD > PDA
Endo - hypothyroid
Extremities - wide gap between 1st and 2nd toes, hyperflexibility of joints, clinodactyly, transverse palmar crease
Facial - upslanting palpebral fissures, flat nasal bridge
BRushfield spots, inner epicanthal folds
Large protruding tongue
Short neck, redundant posterior folds
GI - DA, HD
GU - hypogonadism, most females infertile, most males too
CNS - hypotonia, m ild microcephaly, ID
Pelvic dysplasia, OSA, transient myeloproliferative disorder, leukemia, Alzheimer’s

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7
Q

SPORADIC or ASSOCIATIONS

A
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8
Q

Brown pigmentation
Fibrous dysplasia of bones
Hyperparathyroidism
Hyperthyroidism
Pit adenomas
Precocious puberty

A

McCune Albright

sporadic

also considered neurocutaneous

Coast of Main hyperpigmented along lines of Blashko, Mutation in GNAS1

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9
Q

VACTERL

A

vertebral
anal atresia
cardiac
TEF
renal
limb

1/2 with renal agenesis, some with renal dysplasia

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10
Q

Eagle-Barrett syndrome

A

hypoplasia of abdominal muscle,
cryptorchidism
prostatic hypoplasia
MEGAURETERS - hydronephrosis, dysplastic kidneys
atonic bladder

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11
Q

Caudal regression syndrome

A

sacral and lumbar hypoplasia
disruption of distal spinal cord
neurogenic bladder
VUR
hydronephrosis, renal agenesis

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12
Q

Zellweger syndrome

A

Cerebrohepatorenal

  • hepatomegaly
  • GLAUCOMA
  • brain anomalies
  • cortical renal CYSTS
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13
Q

Jeune syndrome

A

Thoracic asphyxiating dystrophy

  • small thoracic cage
  • short ribs
  • abnormal costochondral junctions
  • CYSTIC tubular dysplasia, glomerulosclerosis, hydronephrosis
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14
Q

Meckel-Gruber syndrome

A

ENCEPHALOCELE
microcephaly
polydactyly
cryptorchidism
POLYCYSTIC or DYSPLASTIC kidneys

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15
Q

Pentalogy of Cantrell

A

Pentalogy of Cantrell (POC) is a collection of five congenital midline birth anomalies heart, pericardium, diaphragm, sternum, and abdominal wall.

It is also referred to as thoracoabdominal ectopia cordis, a condition where the heart is covered by an omphalocele-like membrane. Ectopia cordis (EC) is often found in fetuses with POC.

Infants usually have multiple cardiac malformations with ventricular septal defect, and tetralogy of Fallot being the most common. POC may also carry genetic associations with trisomy 13, 18, 21, and Turner syndrome. The initial management addresses the lack of skin overlying the heart and abdominal cavity.

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16
Q

OEIS complex

A

The OEIS complex comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. It may represent the most severe manifestation of a spectrum of birth defects, the exstrophy-epispadias sequence.

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17
Q

AUTOSOMAL DOMINANT

A
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18
Q

Tuberous sclerosis

A

AD - chr 9, 16

PCKD, renal angiomyolipomata
Fibrous angiomatous lesions
RHABDOMYOSARCOMA
ASHLEAF MACULES
Hypopigmented macules
Intracranial calcifications
seizures

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19
Q

2+/8 features

Cafe au lait spots (6+)
Lisch nodules
First relative with this disease
Axillary or groin freckling
Neurofibroma
Optic glioma
Plexiform neurofibroma
Skeletal dysplasia

A

Neurofibromatosis 1

AD

Most common NB presentation = cafe au lait spots (increase with age, usually 100% by 4 yo)

NF 2 - bilateral acoustic or central neurofibromatosis

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20
Q

Nail-patella syndrome

hereditary osteo-onychodysplasia

A

hypoplastic nails
hypoplastic / absent patella
proteinuria, nephritis syndrome

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21
Q

Achondroplasia

A

80% from new mutations – mutation in transmembrane domain of fibroblast growth factors receptor 3 gene
Relative glucose intolerance
TRIDENT hands (fingers nearly equal length, 3rd, 4th separation)
Short limbs (esp prox long bones)
Depressed nasal bridge, frontal bossing
Megalocephaly, mild hypotonia, small foramen magnum (may lead to hydrocephalus)
Caudal narrowing of spinal cord - can cause sx later
Normal intelligence

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22
Q

Apert

Acrocephalosyndactyly

A

sporadic disorder with AD inheritance pattern

mutation in fibroblast growth factor receptor 2 gene

Fusion of SKULL, HANDS, FEET bones

HYPERTELORISM, MIDFACE hypoplasia
abnormally shaped skull, large fontanels, flat facies
BROAD distal phalanx of thumb and big toe

Irregular CRANIOSYNOSTOSIS (esp coronal)

VSD, PS, overriding aorta
ID
Increased risk acne, fusion cervical vertebrae

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23
Q

Crouzon

Craniofacial dysastosis

A

AD
Variable expression

Mutation in fibroblast growth factor 2 gene (diff mutations than Apert)

MAX HYPOPLASIA, SHALLOW orbits, ocular PROPTOSIS, curved parrot beak nose

premature CRANIOSYNOSTOSIS (esp coronal, lambdoid, sagittal)

LESS mental deficiency

decreased visual acuity, conductive hearing loss

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24
Q

Beckwidth Wiedemann

A

Usually Sporadic occurence

Loss of methylation of maternal chromosome 11 (50%), PATERNAL uniparental disomy (20%), gain of methylation of mat chromosome 11 (5%)

Face - macroglossia, linear EARlobe fissures, EXOPHTHALMOS, prominent OCCIPUT

GI - omphalocele

Growth - macrosomia, organ hyperplasia (renal, pancreatic, pit), fetal adrenocortical cytomegaly
without mental deficiency, large tongue

Also with nevus capillary malformations

intraabd malignancies esp wilms tumor and hepatoblastoma (by 8 yo), limb hyperplasia, hypoglycemia (HCT responsive)

Outcomes - delayed neonatal adaptation, feeding issues, may need sleep study; tumor surveillance q3 mo until 7 yo
infant mortality as high as 21%

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25
Holt Oram
AD Some 12q2 Hand heart CV - >50% ASD >> VSD, CoA, conduction Extr - upper limb defects, absent HYPOPLASTIC or ABN THUMBS, narrow shoulders
26
Marfan
AD, variable expression Fibrillin 1 gene CV - dilated aorta, aortic aneurysm, MVP Extr - arachnodactyly, hyperextensibility, scoliosis Face - lens subluxation (upward), myopia INguinal hernia Other – severe neonatal form w/in 3 mo - CV, MV esp, contractures, high arched palate, hyperextensibility Mgmt - childhood BB (decrease risk aortic dilatation), yearly ECHO, Abx before dental, no sports contact
27
Noonan
AD, wide variable expression 12q22 "TURNER LIKE" CV > 50% Dysplastic pulmonary valve, ASD, CM Pectus excavatum Increased carrying angle Short, WEBBED neck, lost posterior hairline, hypertelorism Cryptorchidism, small penis ID Short stature Abd in coagulation pathway – increased incidence von willebrand disease, 1/3 thrombocytopenia, in utero cystic hygroma
28
Osteogenesis Imperfecta
AD, defect in collagen I I: 25% in 1st year, blue sclera, increased risk fractures, deafness, abn dentition, easy bruising, hypertextensible joints II: At BIRTH, dark blue sclera, increased fx, SHORT AND BROAD bones, die early infancy resp failure, Wormian bones III: at BIRTH, increased risk of fx, IUGR, macrocephaly, deafness, severe kyphoscoliosis IV: normal to grey sclera, increased risk bone deformities
29
Stickler syndrome
AD, variable expression Collage type II hereditary arthro-ophthalmopathy FLAT facies, midface or mandibular hypoplasia (can be ax Pierre Robin), myopia, chorioretinal degeneration, cataracts, ret detach Deafness, hypotonia, hyperextensible joints MYOPIA, SPONDYLOEPIPHYSEAL DYSPLASIA (flat vertebrae w. anterior wedging -- affects SPINE and LONG BONES), MVP
30
Thanotrophic dysplasia
all from new mutations mutation in tyrosine kinase domain of FGFR3 gene I: more common, curved long bones, flat vertebral bodies (platyspondyly) - TELEPHONE FEMUR II: straight femoral bones, taller vertebral bodies, cloverleaf skull SHORT limbs, BOWED long bones LARGE cranium (vs body size), LOW nasal bridge, bulging eyes Temporal lobe dysplasia, hydrocephalus, brain stem hypoplasia, hypotonia, severe DD narrow thorax
31
Treacher Collins
AD, variable expression Mandibulofacial Dysostosis TCOF1 gene on Chr 5 -> leads to 1st and 2nd branchial arch maldevelopment Face - LOWER eyelid coloboma, MANDIBULAR hypoplasia, MALAR hypoplasia (maybe cleft in zygomatic bone) Partial to total absense lower eyelashes conductive hearing loss, visual loss normal intelligence XR: hypoplastic zygomatic arch Outcome: can develop resp distress from narrow airway (may need mandibular distraction), surgical facial correction after facial growth as older, amblyopia may lead to visual loss
32
Waardenburg syndrome
I: AD PAX3 gene mutation 2q35 - lateral displacement MEDIAL CANTHI, deafness severe, pigmentary abn II: AD microphthalmia gene 3p12.3 - normal medial canthi, deafness, severe 50%, pigmentary abn III: AD - upper limb defects eg bone and mm hypoplasia, contractures, pigmentary, ocular, auditory IV: AD or AR - like type II. also HIRSCHSPRUNG non, progressive, profound hearing loss (defect in organ of Corti)
33
Von Hippel Landau
Chr 3, AD over-expression of HIF -> tumor overgrowth Mult tumors esp cerebellum Hemangiomatas Pheochromocytomas
34
MICRODELETIONS
35
Newborn with hypotonia Almond shaped eyes Poor feeding, poor sucking Bilateral failure of testes to descend Excessive sleepiness
Prader Willi Deletion of paternal allele in 15q11 - q13 so gets both copies of this region from mother (maternal uniparental disomy)
36
Hypotonia Jerking movements "like a puppet" Ataxia Risk seizures Widely spaced teeth Large mouth Deep set eyes
Angelman Deletion of paternal allele in 15q11 - q13 so gets both copies of this region from FATHER (paternal uniparental disomy)
37
DiGeorge
de novo velocardiofacial syndrome = CATCH 22 cardiac (AORTIC ARCH abnormalities, PDA (#1?), ToF, VSD Abnormal facies - cleft palate, PROMINENT NOSE / BULBOUS, HYPERTELORISM, protuberant ears, micrognathia, SHORT PHILTRUM, SHORT PALP FISSURES Thymic hypoplasia - cellular immunity deficient Cleft palate Hypocalcemia - due to hypoplastic parathyroid glands --> can lead to seizures GI can have CDH, imperforate anus, esophageal atresia
38
Rubenstein-Taybi
16p13.3 - mostly sporadic - DELETION Cardic PDA, VSD, ASD BROAD thumbs, BROAD first toes, 5th finger clinodactyly, flat feet, joint hypermobility DOWNWARD slanting palpebral fissures, hypoplastic maxilla, narrow palate, prominent or beaked nose Hirsuitism, keloids MICROCEPHALY, POSTNATAL growth deficiency, INCREASED RISK TUMORS
39
WAGR
11p13 - diff sized deletions with diff phenotypes Wilms tumor, Aniridia, GU abnormalities, moderate to severe ID (R) prominent lips, micrognathia congenital CATARACTS GU - cryptorchidism may devp gonadoblastomas, short stature, microcephaly
40
Williams syndrome
7q11.23 deletion – deletion of elastin gene CV - supravalvuler subaortic stenosis >> PPS, VSD 50 - 70% CV HYPOPLASTIC NAILS PROMINENT LIPS, HOARSE VOICE, blue eyes, stellate IRIS pattern, periorbital fullness low IQ Renal asymmetri or pelvic kidney transient hyperCa
41
X linked DOMINANT
42
Fragile X syndrome
XL dominant Loss of function mutation (due to unstable CGG repeats) most commonly inherited cause of ID triple repeat mutation with >= 60 CGG repeats number of methylated repeats ass with severity disease LONG facies, prominent forehead, LARGE ears Large testes ID, 50% females ID and rest LD autism cluttered behavioral problems Hyperextensible joints, mild CT dysplasia Premutation 50 - 200 (females premature ovarian failure, ID - have some functional gene) Complete > 200
43
X linked RECESSIVE
44
Menkes
Xq13 kinky hair abnormality of copper transport --> Cu deficiency --> Cu cannot act as cofactor for many enzymes TWISTED, FRACTUREd lightly pigmented hair, PUDGE face without expression Progressive cerebral deterioration (1-2 mo age hypertonia, irritable, seizures) Wormian bones, increased risk fractures (lateral spur on bones) Dx - abnormal Cu uptake in amniotic fluid cells (prenatal dx) Death in early infancy
45
Klinefelter
47XXY CV - MVP, ToF, ASD Disproportionately long arms and legs, elbow dysplasia HYPOGONADISM, HYPOGENITALIA, gynecomastia, infertile (atrophy seminiferous tubules) behavioral difficulties, LD Increased risk extragonadal germ cell tumors Mgmt - testosterone 11 - 12 yrs, consider mastectomy
46
Turner
45X, 40% mosaic – 45X / 46XX depends on distribution of cells that lack X chromosone, some secondary sex characteristics chromosome deleted usually PATERNAL so not associated with AMA in utero - spont abortion CV 35% CoA, BAV, AS, MVP Cubitus valgus (increased carrying angle) Cystic hygroma, excess nuchal folds, webbed posterior neck gonadal dysgenesis, no secondary sex characteristics, amenorrhea horseshoe kidney congenital lymphedema, short stature, broad chest wide nipples incresaed risk gonadoblastoma Mgmt - growth hormone, estrogen for secondary sex characteristics, echo q5 yrs (risk dissection) Most normal intellience, some LD, increased risk osteoporosis, a/i thyroid disease
47
CHARGE
chromodomain helicase DNA binding gene 7 (CHD 7) on chr 8q12 AD but mostly de novo Coloboma, heart disease, atresia of choanae, retarded growth, Genital hypoplasia (more common - 50% with this) , Ear anomalies Dx = all 4 major or 3 major and 3 minor Major - ear, CN, coloboma, choanal atresia Minor - DD, cardiac, facial features, FGR, genital hypoplasia, TEF, CLeft lip/palate note - can also have some hypoCa and immune dysfunction ( has been reported in some)
48
Cat eye
Extra part of chromosome 22, in quadruplicate or triplicate at 22q11 region CV TAPVR, persistent SVD Facial - downslanting palpebral fissures ANAL ATRESIA mild ID COLOBOMA iris renal agenesis
49
Cornelia de lange
mutation in 1 of 3 cohesin genes - NIPBL, SMC1L1, SMC3 VSD > ToF MICROMELIA, ulnar abn SYNOPHRYS (eyebrowns joined in middle), THIN downturning upper lip, long and curly eyelashes ID, initial hypertonic, microbrachycephaly Hirsuitism, low posterior hairline some have mild phenotype
50
AUTOSOMAL RECESSIVE
51
Bone marrow failure (anemia, thrombocytopenia) Skeletal abnormalities (thoracic dystrophies) Recurrent infections Pancreatic insufficiency (FTT, steatorrhea)
Schwachmann Diamond AR chromosome 7q11 on SDS gene - role in ribosomal assembly risk of myelodysplastic syndromes
52
Carpenter
AR 50% CV PDA, VSD, ASD, PS Polydactyly, syndactyly LATERAL DISPLACEMENT INNER CANTHUS, shallow supraorbital ridges Brachycephaly, ID FTT, may be omphalocele
53
Ellis van Crevald
AR Chondroectodermal dysplasia CV 50% SINGLE ATRIUM OR ASD SHORT DISTAL extremities, polydactyly, nail hypoplasia narrow thorax, normal intelligence 50% mortality due to cardioresp difficulties (narrow thorax)
54
Fanconi pancytopenia
increased number of chromosomal breaks in lymphocytes and amniotic fluid cells DERM - hyperpigmentation (increases with age, esp groin, axilla, trunk) EXTR - thumb hypoplasia, RADIUS HYPOPLASIA, short stature Facial - ptosis, nystagmus GU - Renal and GU 35%, small genitalia Heme - pancytopenia ID IUGR Dx - breakage study Outcome - 35% mortality heme abnormalities, increased risk AML
55
Meckel-Gruber
AR, 17q21 Cardiac - asd, vsd polydactyly microphthalmia, cleft palate, micrognathia, ear OCCIPITAL ENCEPHALOCELE, microcephaly, cerebral and cerebellar hypoplasia, absence CC or septum pellucidum CYSTIC DYSPLASTIC KIDNEYS bile duct proliferation, hepatic cysts Prenatal – elevated AFP if +encephalocele Outcome depends on severity of illness
56
Smith-Lemli-Opitz
AR defect in cholesterol synthesis --> low cholesterol level and elevated 7 dehydroceholesterol anteverted nostrils, ptosis, cataracts 2nd and 3rd toe syndactyly moderate ID, tone hypo then hypertonic IUGR high mortality 1st year if severe
57
Thrombocytopenia absent radius
AR CV ToF, ASD Worse hematologic in infancy - thrombocytopenia esp precipitated by virus, esp GI, granulocytosis, anemia ABSENT BILATERAL RADII, have thumbs, ULNAR abnormalities, hip dysplasia
58
Fryns
AR GI - CDH, increased risk HD, DA, imperforate anus Neuro agenesis CC, hydrocephalus, olfactory tract abnormality, optic hypoplasia, neuronal heterotopias CLOUDY cornea, micropthalmia, COARSE facial features DIGT and NAIL hypoplasia, renal anomalies
59
Denys Drash
progressive renal disease Wilms tumor male pseudohermaphroditism (per B&M book)
60
WAGR
Wilms tumor Aniridia GU Mental "Retardation"
61
Mitochondrial diseases
62
Glycogen storage diseases
63
Lysosomal storage diseases
64
Lysosomal storage diseases
65
Urea acid cycle
66
Non ketotic hyperglycemia
67
Klippel Trenauney Weber syndrome
affects devp of vasculature, soft tissues (skin, mm) and bones Port-wine stain, hypertrophy of soft tissues and bones, and vein malformations
68
Townes Brocks
Imperforate anus Dysplastic ears Thumb abnormalities
69
Linear inflammatory vesicles along trunk and extremities (EOS) - birth Pigmented warts on red base Whorls on trunk and extremities (1st year) Hypopigmented linear streaks - childhood
XLD Incontinentia Pigmenti Females; b/c lethal in males Mother with subtle skin findings
70
Blisters at dermal and epidermal junction -- throughout body Dystrophic nails Oral and anal mucos involved - inheritance - scarring?
Junctional epidermolysis bullosa AR Atrophic scarring May present with pyloric stenosis Short life span
71
Intra-epidermal blisters on FACE, HANDS and SCALP
Simplex or Epidermolytic Epidermolysis Bullosa AD No scarring, mild clinical course, heal quickly
72
Intra-dermal blisters Often alsowith hair loss, anemia, dysphasia,poor growth
Dystrophic / Dermolytic EB AR or AD Secondary to type VII collagen decrease Increased collagenase
73
Presents with bright erythema on face -> severe bullous eruptions diffusely (FLACCID, easy to RUPTURE) Fever, irritable, tender skin Conjunctivitis, nasal congestion +Nikolsky sign Crusting around mouth and eyes Dx Outcomes
Staph Scalded Skin Sydrome - mostly due to EXOTOXIN of Staph aureus - group II phage most common - separation at GRANULAR layer of skin (of epidermis) CULTURE nasopharynx, conjunctiva, skin and blood -- BULLAE not helpful to culture b/c STERILE flid. Rx abx, fluids -> no scarring, rapid recovery
74
Waxy scaly, hair loss, scalp
nevus sebaceous jacobbson
75
Collodion membrane
thickened stratum corneum from amniotic fluid -> swells - > eyelids everted, lips everted -> born -> parchment paper like skin, erythematous -> risk dehydration! often due to nonbullous congenital ichthyosiform
76
Cutis marmorata ass with trisomy 18, 21, hypothyroidism, cornelia de lange
77
Differences between preterm, term and adult skin
78
79
80
Types of chromosomal translocations
81
Changes in embryo hemoglobin, fetal hemoglobin and post-natal hemoglobin
82
Terms describing congenital abnormalities - and examples
83
paternal uniparental disomy
84
85
86
87
Apert vs Crouzon
88
Neurocutaneous genetics
89
Neurocutaneous genetics
90
tests
91
92
FISH
93
tri 13
94
fragile X
95
pre term vs term skin
96
"common" chromosome mutations and genetics
97
98
same as pop - always a new mutation!
99
100
Holt Oram presentation
AD
101
102
103
104
105

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