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Genetics Flashcards

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1
Q

*Cardiac defects (atrial septal defect is the most common)
*Upper limb defects
*Absent, hypoplastic or abnormally shaped thumbs
*Narrow shoulders
*Hypertelorism

A

Holt-Oram syndrome

Autosomal dominant disorder with variable expression.

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2
Q

Facial features of widely spaced teeth, large mouth, protruding
tongue, decreased iris pigment, deep set eyes, maxillary hypoplasia
*Neurologic features of severe mental deficiency, absent speech,
ataxia, jerky movements, seizures
*“Puppet-like” gait

A

Angelman syndrome

microdeletion 15q11-13 deletion where the deleted piece is of maternal origin

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3
Q

*Cardiac, aortic arch abnormalities
*Facial features including cleft palate, hypertelorism, short palpebral
fissures
*Hypoplastic to aplastic thymus
*Hypocalcemia
*Deficient cellular immunity
*Developmental delay

A

DiGeorge syndrome (CATCH-22)

22q11.2

Cardiac Defects: IAA, TGA, TOF

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4
Q

Small hands and feet
Almond-shaped eyes
Hypogenitalia with undescended testes
Hypotonia
Obesity
Breech positioning in utero

A

Prader-Willi syndrome

deletion of 15q11-13 where the deleted piece is of paternal origin

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5
Q

*Cardiac defects
*Broad thumbs and toes
*Downward slanting of palpebral fissures
*Hypoplastic maxilla
*Hirsutism

Gene:
Encodes for:

A

Rubenstein-Taybi syndrome

16p13.3

Encodes for the CAMP-regulated enhancer-binding protein (CREB)

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6
Q

*Coloboma
*Heart defect
*Choanal atresia
*Retarded growth
*Genital hypoplasia
*Ear anomalies/deafness

A

CHARGE Syndrome

CHD7 (chromodomain helicase DNA-binding protein 7) located as chromosome 8

Major Criteria: Coloboma, Choanal Atresia, Ear Anomalies, CN dysfunction

Minor Criteria: conotruncal cardiac anomalies, genital hypoplasia, orofacial cleft and tracheoesophageal fistula

Can also immune dysfunction and hypocalcemia

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7
Q

Disorders with advanced paternal age

A

*Achondroplasia
*Apert syndrome
*Crouzon syndrome
*Neurofibromatosis I
*Osteogenesis imperfecta
*Pfeiffer syndrome
*Retinoblastoma
*Thanatophoric dysplasia

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8
Q

2nd and 3rd toe syndactyly
Facial anomalies including anteverted nostrils
Genital abnormalities

A

Smith-Lemli-Opitz syndrome

autosomal recessive pattern

Def Dx: low serum cholesterol, elevated 7-dehydrocholesterol level

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9
Q

ACE-Inhibitor Fetal Effects

A

Oligohydramnios
Renal failure
Lung hypoplasia
Skull ossification defects

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10
Q

Βeta-blockers (Propranolol) Fetal Effects

A

Fetal bradycardia
Hypoglycemia
Possibly fetal growth restriction

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11
Q

Carbamazepine Fetal Effects

A

Neural tube defects
Craniofacial defects
Hemorrhagic disease of the newborn Developmental delay

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12
Q

Methimazole Fetal Effects

A

Choanal atresia
Esophageal atresia
Hypothyroidism, goiter
Cutis aplasia

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13
Q

Tetracyclines (Doxycycline,
Minocycline, and Tetracycline) Fetal Effects

A

Slowed bone growth
Enamel hypoplasia
Permanent yellowing of the teeth

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14
Q

Cardiac (30%) - VSD, PDA, TOF
Extremities—transverse palmar crease
Facial—hypertelorism, downward slant of palpebral fissures
Neurology—mental deficiency, cat-like cry (attributed to abnormal laryngeal development), microcephaly.
hypotonia

A

Cri du chat syndrome
Genetics: 5p Deletion

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15
Q

Extremities—thumb hypoplasia
Eves—colobomas, increased risk of retinoblastoma (usually bilateral)
Facial—microcephaly, micrognathia, large malformed and low-set ears, high nasal bridge, hypertelorism, ptosis,
epicanthal folds
Genitourinary—hypospadias, cryptorchidism
Neurology—mental deficiency, microcephaly

A

Deletion 13 q syndrome

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16
Q

Facial— “Greek warrior helmet” with high forehead, broad or beaked nose, hypertelorism, low-set
simple ear with preauricular dimple, prominent glabella

Neurology—microcephaly and/or cranial asymmetry

Gene?

A

Wolf-Hirschhorn syndrome

Genetics: 4p deletion

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17
Q

Wilms tumor (50%), Aniridia, Genitourinary abnormalities, moderate to severe mental deficiency - (or
Retardation)

Gene?

A

WAGR syndrome

Genetics: 11 p 13 deletion

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18
Q

Cardiac (50-70%)—supravalvular subaortic stenosis > peripheral pulmonic stenosis

Extremities—hypoplastic nails
Facial—prominent lips with open mouth, blue eyes, stellate iris pattern

Neurology—mental deficiency

A

Williams syndrome

7q11.23 deletion leading to deletion of an elastin gene

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19
Q

Cardiac (50%)— PDA, VSD, ASD

Extremities—Polydactyly

Facial—lateral displacement of inner canthus

Neurology—brachycephaly

A

Carpenter syndrome

Genetics: Autosomal Recessive

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20
Q

Cardiac—(60%) single atrium or atrial septal defect

Extremities—short distal extremities, polydactyly (fingers more common than toes), nail hypoplasia

Facial—delayed teeth eruption, short upper lip

Other— narrow thorax

Mode of Inheritance?

A

Ellis-van Creveld syndrome

Genetics: Autosomal Recessive

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21
Q

Derm: Hyperpigmentation
Extremities:
Radial hypoplasia, thumb hypoplasia, short stature
GU: 35% with Renal and Urinary Tract abnormalities
Heme: Pancyotypenia

Inheritance?

A

Fanconi Pancytopenia Syndrome

Genetics: Autosomal Recessive

Increased number of chromosomal breaks in lymphocytes and amniotic fluid cells

Increases risk for AML

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22
Q

Extremities: Polydactyly
Neuro: Occipital Encephalocele
Renal: Cystic Dysplastic Kidneys

Inheritance?

A

Meckel-Gruber Syndrome

Genetics: Autosomal Recessive

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23
Q

Heme: Thrombocytopenia
Extremities: Absent bilateral radii, ulnar abnormalities

A

TAR Syndrome

Genetics: Autosomal Recessive

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24
Q

Increased risk for CDH
Coarse facial features
Digital and Nail Hypoplasia

Increased risk for Hirschsprung’s, Duodenal atresia, imperforate anus

A

Frynn Syndrome

Genetics: Autosomal Recessive

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25
Q

long facies. prominent forehead, large ears, thick nasal bridge, epicanthal folds
Genitourinary—large testes post-pubertv
Neurology—mental deficiency, autism.
poor eye contact, macrocephaly
Other—hyperextensible fingers/ joints, mild connective tissue dysplasia

A

Fragile X Syndrome

X-linked dominant

Triple repeat mutation with >60 CGG repeats - number of repeats makes an impact on the severity of the expression

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26
Q

Facial—twisted, fractured, lightly pigmented hair

Neurology—progressive cerebral deterioration, Seizures

Skeletal - wormian bones

Inheritance?

A

Menkes syndrome

X-linked recessive, gene located at Xql3

Secondary to copper deficiency

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27
Q

Cardiac (15%)—mitral valve prolapse

Extremities: disproportionately long arms and legs

Genitourinary—hypogonadism, hypoqenitalia, gynecomastia, inferitility

Neuro: Behavior and Learning Disabilities

A

Klinefelter Syndrome

47,XXY

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28
Q

Cardiac (35%)—coarctation of aorta, bicuspid aortic valve
Extremities: Cubitus Valgus (increased carrying angle)
Facial/Neck: Cystic Hygroma, Posterior Webbed Neck
GU: Gonadal Dysgenesis
Horseshoe kidney
Congenital lymphedema
Broad chest with wide spaced nipples

A

Turner syndrome

50% X0

Increased risk for Gonadoblastoma

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29
Q

Down-slanting palpebral fissures
anal atresia
Coloboma of the iris

A

Cat-Eye Syndrome

Extra Part of Chromosome 22 or Triplicate 22q11 (not deletion, like Digeorge)

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30
Q

Extremities—3rd and 4th finger syndactyly

large placenta with hydatidiform changes

intrauterine growth restriction

A

Triploidy

Complete extra set of chromosomes

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31
Q

Micromelia (small hands and feet)

Facial—synophrys (eyebrows joined in middle), thin down-turning upper lip, long and curly eyelashes

Neuro: initial
hvpertonicitv. microbrachycephaly

hirsutism, low posterior hairline

A

Cornelia de Lange syndrome

Mutation in 1of 3 cohesin-associated genes

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32
Q

Facial—expressionless face, micrognathia

Extremities—talipes equinovarus

6th and 7th nerve palsy

A

Mobius sequence

4 types of abnormal development
1. Destruction of central brain nuclei
2. Hypoplasia or absence of central brain nuclei
3. Peripheral nerve involvement
4. Myopathy

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33
Q

micrognathia, glossoptosis (normally sized tongue in small oral cavity), cleft palate (U-shaped)

Conductive Hearing Loss

A

Pierre Robin sequence

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34
Q

oculo-auriculo-vertebral spectrum or facio-auriculo-vertebral spectrum

A

Goldenhar syndrome

Facial anomalies are usually unilateral

Due to 1st and 2nd brachial arch abnormalities

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35
Q

short neck, low posterior hairline, limited movement of head

Abnormal Cervical Vertebrae

A

Klippel-Feil sequence

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36
Q

Asymmetric Limb Hypertrophy

Vascular Lesions (capillary and cavernous hemangiomas)

A

Klippel-Trenaunay Weber Syndrome

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37
Q

Small Triangular Facies
Short Stature
Congenital Asymmetry of the Skeleton
5th finger clinodactyly

A

Russell-Silver Syndrome

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38
Q

Unilateral Hypoplasia or absence of the pectoralis muscle

A

Poland Sequence

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39
Q

Pigmentary abnormalities: White Forelock, Partial Albinism

+ SNHL

A

Waardenburg Syndrome

Autosomal Dominant

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40
Q

Cloverleaf Skull

Type I—more common, curved long bones, flat vertebral bodies

Type 2—straight femoral bones, taller vertebral bodies, cloverleaf skull
Extremities—short limbs, bowed long bones

Facial—large cranium, low nasal bridge

Skeletal—flat vertebrae

A

Thanatophoric dysplasia

Autosomal Dominant

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41
Q

lower eyelid coloboma
Down-slanting of palpebral fissures
mandibular hypoplasia
dysmorphic ears
malar hypoplasia

Conductive Hearing Loss

A

Treacher Collins syndrome

Facial anomalies are usually bilateral

Autosomal Dominant

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42
Q

flat facies. depressed nasal bridge, prominent ears, epicanthal folds, short anteverted nose, midfacial or
mandibular hypoplasia (can be associated with Pierre Robin sequence),

myopia, spondyloepiphyseal dysplasia (flat vertebrae with anterior wedging, poorly developed distal tibial
epiphyses, flat femoral epiphyses)

A

Stickler syndrome

AD

mutation of type II collagen gene located at 12q13.11-q13.2 locus

hereditary arthro-ophthalmopathy

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43
Q

Type 1: blue sclera, increased risk of fractures, deafness.
abnormal dentition, easy bruisability. hyperextensible joints. Wormian bones in cranial sutures

Type II—noted at birth, dark blue sclera, increased risk of fractures, short and broad long bones, patients are
usually stillborn or die in early infancy because of respiratory failure

Type III— noted at birth, blue sclera during infancy that normalizes in adults, increased risk of fractures

Type IV—normal to grey sclera

A

Osteogenesis imperfecta syndrome

AD

Defect in Type 1 Collagen

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44
Q

Dysplastic Pulmonary Valve
Pectus Excavatum
Short or Webbed Neck
Cryptorchidism
Abnormalities in coagulation pathway (Increased risk for vWF disease)

Inheritance?
Gene?

A

Noonan Syndrome

AD

Abnormality Mapped to 12q12

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45
Q

Dilated Aorta
Arachnodactyly
Hyperextensible Joints
Scoliosis
Upward Lens Subluxation

Inheritance pattern?
Gene - Name and Mutation

A

Marfan Syndrome

AD

Abnormal Fibrillin Gene (15q21.1)

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46
Q

Camptodactyly (flexion of proximal
interphalangeal joint)

Facial—thick lips, deep-set eyes, prominent cupped ears

A

Trisomy 8

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47
Q

Midline abnormalities

Cutis Aplasia
Narrow hyperconvex fingernails
Cleft lip, cleft palate, small eyes
holoprosencephaly
Persistence of fetal hemoglobin (Increased Gower hemoglobin)
Increased neutrophils with nuclear projections

A

Trisomy 13

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48
Q

Extremities—”trident hands “(fingers nearly equal length, separation between 3rd and 4th fingers), short limbs

Facial—depressed nasal bridge

Neurology—megalocephaly, caudal
narrowing of spinal cord, normal intelligence

A

Achondroplasia

AD - 80-90% result from new mutations

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49
Q

Hypertelorism
Midface Hypoplasia
Broad distal phalanx of thumb and big toe syndactyly
Irregular craniosynostosis (Most commonly coronal)

A

Apert syndrome

Increased risk with increased paternal age

Due to mutation in fibroblast growth factor receptor 2 gene

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50
Q

Maxillary Hypoplasia, Shallow Orbits

Premature craniosynostosis (coronal,
lambdoid, sagittal sutures)

Mental deficiency less common

A

Crouzon Syndrome

Autosomal dominant with variable expression

Due to different mutation in fibroblast growth factor receptor 2 gene

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51
Q

Vitamin B1
(thiamine)

A

Beriberi (symptoms include fatigue, irritability, constipation, cardiac failure)

Associated with pyruvate dehydrogenase complex deficiency and maple syrup urine disease

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52
Q

Vitamin B2
(riboflavin)

A

Failure to thrive, photophobia, blurred vision, dermatitis, mucositis

Associated with glutaric aciduria type I

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53
Q

Vitamin B6
(pyridoxine)

A

Dermatitis, mucositis
Hypochromic anemia, possible seizures

Associated with homocystinuria

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54
Q

Biotin

A

Alopecia, dermatitis, scaling, seborrhea

Associated with biotinidase deficiency, betamethylcrotonyl glycinuria, propionic acidemia, and pyruvate dehydrogenase complex deficiency

55
Q

Vitamin C
(ascorbic acid)

A

Poor wound healing and bleeding gums

Associated with transient tyrosinemia

56
Q

Vitamin D

A

Rickets
Failure to thrive
Possible tetany

57
Q

Vitamin A

(Retinol)

A

photophobia, conjunctivitis, failure to thrive, generalized scaling,
abnormal epiphyseal bone formation, and/or abnormal tooth enamel

58
Q

Vitamin E

A

Hemolysis, Anemia, Reticulocytosis

59
Q

Which components are preserved in the
pasteurization process?

A

Oligosaccharides
Vitamins A, D, and E
Lactose
LC-PUFA
Epidermal growth factor
IGG and IGA preserved; IGM destroyed

Lactoferrin (reduced by 50%)
Lysozyme (reduced by 25%)

60
Q

Chromium Deficiency

A

Function: Regulates glucose
levels because of role in insulin

Effects
In animals – diabetes, renal issues
In humans – unknown

61
Q

Copper

A

Critical for production of RBC and Hgb formation
Important for Iron Absorption
Associated with multiple enzyme activities

Deficiency
Anemia
Osteoporosis
Depigmentation of hair and skin
Neutropenia
Poor weight gain
Hypotonia, ataxia later in life

62
Q

Iron

A

Absorbed predominantly in
the duodenum and proximal jejunum

Deficiency:

Anemia (microcytic, hypochromic)
Failure to thrive

63
Q

Manganese

A

Role in enzyme activation
Important for normal bone structure
Role in CHO metabolism

Deficiency: Unknown

64
Q

Selenium

A

Cofactor for glutamine peroxidase

Deficiency
In animals – muscle disease
In humans – cardiomyopathy

65
Q

Zinc

A

Acrodermatitis enteropathica

AR disorder; abnormality of
zinc absorption or transport
Sx: FTT, alopecia, diarrhea,
dermatitis (commonly perianal),
ocular changes, rash (crusted,
erythematous, involving face,
extremities and anogenital areas),
nail hypoplasia or dysplasia

Acquired zinc deficiency: Premature infants receiving inadequate amounts of zinc

Maternal zinc deficiency can lead
to fetal growth restriction,
congenital anomalies

Infants with malabsorption, poor
weight gain poor wound healing,
anemia (iron deficiency)

66
Q

Pancreatic amylase

Present at __ weeks’ gestation
__ amounts produced
__ secretion at birth

A

Present at 22 weeks’ gestation
Adequate amounts produced
Decreased secretion at birth

67
Q

Glucoamylase

___ action at birth
Located in the __
Action

A

Normal action at birth
Located in the intestinal brush border
Removes glucose from end of starch

68
Q

Intestinal disaccharidases

A

All except lactase reach adult levels at 28 weeks’ gestation

Glucosidases = sucrase, maltase, isomaltase

69
Q

Colonic bacteria

A

Helps ferment malabsorbed CHO to acids, which are absorbed in colon (system called colonic savage pathway)

70
Q

Lactase

A

Adult levels at 36 weeks’ gestation

Colonic salvage pathway helps limit CHO malabsorption

71
Q

Whey:Casein Ratios

A

Whey:Casein Ratio

Colostrum : 80:20,
Mature Breast Milk: 55:45
Preterm Formula: 60:40

72
Q

EEG Findings at 27-28 weeks

A

Discontinuous

Long periods of quiescence occasionally interrupted by synchronous bursts

No EEG response to external stimuli

73
Q

EEG Findings at 29 - 30 weeks

A

Discontinuous
Asynchronous activity
Appearance of “delta brushes” in central region and temporal theta bursts

74
Q

EEG Findings at 31 - 33 weeks

A

Continuous activity
Predominantly asynchronous with synchrony during active sleep
“Delta brushes” over occipital and temporal areas

75
Q

EEG Findings at 34 - 35 weeks

A

Improved continuity and synchrony in awake and active sleep
“Delta brushes” with increased voltage and speed
Temporal theta bursts disappear
Transient frontal shape waves appear
EEG changes with external stimuli

76
Q

EEG Findings at 36 - 37 weeks

A

Continued improvement in continuous and synchronous activity
Able to differentiate between awake state and sleep
“Delta brushes” disappear from central region

77
Q

EEG Findings at 38 - 40 weeks

A

Continuous activity in quiet and active sleep and during awake state
Synchrony activity predominates
“Delta brushes” of occipital region disappears

78
Q

Lowe Syndrome

A

Oculocerebrorenal Syndrome - Ophthalmic, Cerebral, Renal, and GU manifestation

Dx: Elevated AFP + Elevated nucleotide pyro-phosphate in skin fibroblasts

79
Q

Barter Syndrome

A

Defect in the sodium, chloride, and potassium transport in the loop of Henle (mimic loop diuretics)

Presentation: hypokalemic metabolic alkalosis with hypercalciuria

Common to have polyuria, polyhydramnios, and salt wasting

80
Q

Gittleman Syndrome

A

Defect in Na-Cl cotransporter in the distal tubule (mimic thiazine diuretics)

Presentation: hypokalemia, hypertension, elevated renin and aldosterone. Urine Calcium is low

81
Q

Liddle Syndrome

A

Defect: ENaC channel mutation leading to elevated sodium reabsorption

Presentation: Hypertension, Hypernatremia, Metabolic alkalosis, Hypokalemia. Decreased renin and aldosterone

82
Q

Most common cause of abdominal mass in the newborn

A

Multicystic Dysplastic Kidney; many involute so the many may not be present

20-40% with GU anomalies

83
Q

Renal agenesis occurs as a result of failure of development of the ___

Renal Dysplasia?

A

1) Ureteric Bud

2) Ureteric bud forms but does not interact with the undifferentiated mesoderm

84
Q

Inducers of the P450 Cytochrome System

A

Dexamethasone
Phenobarbital
Phenytoin
Rifampin

85
Q

ACE Side-Effects

A

Oligohydramnios
Renal failure
Lung hypoplasia
Skull ossification defects

86
Q

Methimazole side-effect

A

Cutis aplasia
Choanal atresia
Esophageal atresia
TEF

87
Q

Βeta-blockers (Propranolol) side-effect

A

Fetal bradycardia
Hypoglycemia
Possibly fetal growth restriction

88
Q

Carbamazepine side effect

A

Neural tube defects
Craniofacial defects
Hemorrhagic disease of the
newborn
Developmental delay

89
Q

Henry’s law

A

At a constant temperature,
any gas physically dissolves in a liquid in proportion to its partial pressure

90
Q

Boyle’s law

A

At a constant temperature, a given volume of gas varies inversely to the pressure
to which it is subjected

91
Q

Charles’ Law

A

Gasvexpands as it is warmed and shrinks as it is cooled

92
Q

Dalton’s Law

A

the total pressure exerted by a mixture of gases is equal to the sum of the partial pressure of each gas

93
Q

Fick’s law

A

transfer of solute by diffusion is directly proportional to the cross-sectional area
available for diffusion

94
Q

Dilatedcardiomyopathy
proximalmuscleweakness
neutropenia
pre‐pubertalgrowthdelay

Inheritance?

A

Barth Syndrome

X-Linked Recessive

95
Q

Oculocutaneousalbinism
Pyogenicinfections
Easybruising
Nystagmus
Peripheralneuropathy

A

Chediak-Higashi

lysosomaltraffickingregulatordefectleadingtodecreasedphagocytosis

Autosomalrecessive

LargeintracytoplasmicgranulesinWBCsinbonemarrow;bonemarrowtransplantonlycure

96
Q

Failure to thrive, early onset hypotonia
progressive microcephaly
retinochoroidal dystrophy
neutropenia

A

Cohen Syndrome

97
Q

thrombocytopenia
infections(bacterial,viral,fungal)
eczema

A

Wiskot-Aldrich

X-Linked Recessive

98
Q

Exocrine pancreatic insufficiency
Skeletal abnormalities
Bone marrow dysfunction

Inheritance

A

Schwann-Diamond Syndrome

Autosomal Recessive

99
Q

Waterydiarrhea
Endocrinopathy(Neonatal IDM, Hypothyroidism)
Eczematousdermatitis

A

IPEX Syndrome

100
Q

Smalltonsils/lymphnodes
Recurrent bacterial infections

A

X‐linkedagammaglobulinemia

101
Q

Normal to Elevated levels of IgM
Low to Absent IgG, IgA, IgE
Perirectal abscess, Oral ulcers
Opportunistic Infections

A

HyperIgMsyndrome

102
Q

Leukocytosis
Recurrentinfectionswithoutpus
Delayedseparationofumbilicalcord

A

Leukocyteadhesiondeficiency

AR

103
Q

Severe, recurrent infections with Catalase + Oragnisms

A

Chronic Granulomatous Disease

Peri-rectal abscess can be a buzz word

Abnormalnitrobluetetrazoliumtest(doesn’tturnblue)

104
Q

Most common neutrophil deficiency

A

Myeloperoxidase deficiency

Usually clinically asymptomatic

105
Q

Pathologic findings on liver biopsy
1) Neonatal Idiopathic Hepatitis
2) Biliary Atresia
3) Alagille Syndrome
4) Sclerosing Cholangitis
5) Alpha-1-antitrypsin def

A

1) Multinucleated Giant Cells
2) Bile Duct Proliferation
3) Bile Duct Paucity
4) Necroinflammatory duct lesions
5) Intrahepatocytic Globules

106
Q

Neonatal Cholestasis
Renal Anomalies
Butterfly Vertebrae
Posterior Ocular embryotoxon
Peripheral Pulmonic Stenosis

Mutation

A

Alagille Syndrome

JAG-1 mutation

107
Q

Fever
Splenomegaly
Cytopenia
Low Fibrinogen
High Triglyceride
High Ferritin
Hemophagocytosis
High IL-2 Activity
Low NK Cell Activity

A

Hemophagocytic Lymphohistiocytosis

Molecular Dx: Perforin, hMUNC 13-4
Tx: SCT

108
Q

Placental Transfer by Facilitated Diffusion

A

Glucose

109
Q

Placental Transfer by Simple Diffusion

A

Na, Cl, H20, Oxygen, CO2, Fat-Soluble Vitamins

110
Q

Placental Transfer by Active Trasport

A

Amino Acids, Water-Soluble Vitamins, Mg, Ca, Phos, Fe, Iodide

111
Q

Hyperinsulinemia labs

A

Elevated Insulin, C-Peptide
Low Urine Ketones, Lactate, FFA, and Beta-Hydroxybutyrate

112
Q

Transport Mechanism
1) Fructose
2) Galactose

A

1) Glut-5
2) SGLT-1

113
Q

Excess Issues
1) Chromium
2) Copper
3) Manganese

A

1) Renal Issues
2) Liver Toxicity
3) CNS Issues

114
Q

Preterm vs Term breastmilk

A

Preterm has:
- Higher LC-PUFA, Sodium, Chloride, Protein
- Lower Lactose

115
Q

Holman Ratio

A

Marker for EFAD; ratio > 0.2

Triene (Mead Acid) : Tetraene (Arachidonic Acid)

Decrease in omega-3 and omega-6 pathway leads to an increase omega-9 pathway

116
Q

Mother has acute fatty liver disease of pregnancy. What is the fetal dx?

A

LCHAD

117
Q

Impaired oxidation long chain FA

A

Zellweger Syndrome (Peroxisomal Disorder)

Presents with Hepatocerebrorenal syndrome

118
Q

Vitamin B12 deficiency

A

Macrocytic Anemia, Hypersegmented Neutrophils

Vit B12 + Bile Acids are absorbed in the distal ileum

119
Q

Normal B/T cells
Low IgG

A

Transient Hypogammaglobulinemia of Infancy

Nadir at 2-4 months

120
Q

PFIC

A

Abnormal bile secretion/production causing hepatitis and cholestasis

PFIC 1 and 2 - Neonatal Period -**GGT is normal

PFIC 3 presents in the childhood period

121
Q

Preterm vs Term Formula

A

Preterm Formula has:
More Protein, Calcium, MCT
Lower Lactose

Preterm Formulas are not hyperosmolar

122
Q

Mutation to avoid Gentamicin

A

MT-RNR 1 gene

Maternal Transmission (mitochondrial)
Affects cochlear hair cells (SNHL)

123
Q

Primary Neurulation

A

Brain and spinal cord (except lower sacral segment), 3-4 weeks gestation

Abnormalities: anencephaly, encephalocele, myelomeningocele, Arnold-Chiari malformation

124
Q

Secondary Neurulation

A

Spinal cord and lower sacral segments, 4-7 weeks gestation

Abnormalities: spinal cysts, tethered cord, lipoma, teratoma, myelocystocele, meningocele-lipomenigocele

125
Q

Prosencephalic stage

A

2-3 months gestation
Abnormalities: aprosencephaly, holoprosencephaly, agenesis of corpus callosum, agenesis/absence septum pellucidum, septo-optic dysplasia

126
Q

Glial proliferation

A

3-4 months gestation

Abnormalities: Micrencepaly, macrencephaly

127
Q

Neuronal migration

A

3-5 months gestation

Abnormalities: Schizencephaly, lissencephaly, pachygyria, polymicrogyria

128
Q

Hypotonia
Eye anomalies
Brain anomalies

A

Walker-Walburg Syndrome

AR

Congenital muscular dystrophy syndrome

129
Q

Hypertelorism
Vertical groove in the middle of the face
Ocular anomalies
Cleft lip/palate
Encephalocele

A

Frontonasal Dysplasia

130
Q

Imperforate Anus
Thumb abnormalities
Dysplastic Ears

Inheritance?
Gene Mutation?

A

Townes-Brocks Syndrome

AD

SALL1 Gene Mutation

131
Q

Seizure within the first week of life
Family hx of seizure that resolved

A

Benign Neonatal Familial Epilepsy

AD mutation altering voltage-gated potassium channels

132
Q

Prenatal Screen Timings
1) Quad Screen

A

1) 14-20 weeks

133
Q

Warfarin Exposure

A

Depressed Nasal Bridge
Nasal Hypoplasia
Stippled Bone Epiphysis
LBW
Seizure activity

134
Q

Foremilk vs Hindmilk

A

Foremilk has:
1) More lactose
2) Less Fat
3) Equal Protein

MT Genetics (2 decks)

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