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Genetics Flashcards

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
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
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
26
Facial—twisted, fractured, lightly pigmented hair Neurology—progressive cerebral deterioration, Seizures Skeletal - wormian bones Inheritance?
Menkes syndrome X-linked recessive, gene located at Xql3 Secondary to copper deficiency
27
Cardiac (15%)—mitral valve prolapse Extremities: disproportionately long arms and legs Genitourinary—hypogonadism, hypoqenitalia, gynecomastia, inferitility Neuro: Behavior and Learning Disabilities
Klinefelter Syndrome 47,XXY
28
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
Turner syndrome 50% X0 Increased risk for Gonadoblastoma
29
Down-slanting palpebral fissures anal atresia Coloboma of the iris
Cat-Eye Syndrome Extra Part of Chromosome 22 or Triplicate 22q11 (not deletion, like Digeorge)
30
Extremities—3rd and 4th finger syndactyly large placenta with hydatidiform changes intrauterine growth restriction
Triploidy Complete extra set of chromosomes
31
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
Cornelia de Lange syndrome Mutation in 1of 3 cohesin-associated genes
32
Facial—expressionless face, micrognathia Extremities—talipes equinovarus 6th and 7th nerve palsy
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
33
micrognathia, glossoptosis (normally sized tongue in small oral cavity), cleft palate (U-shaped) Conductive Hearing Loss
Pierre Robin sequence
34
oculo-auriculo-vertebral spectrum or facio-auriculo-vertebral spectrum
Goldenhar syndrome Facial anomalies are usually unilateral Due to 1st and 2nd brachial arch abnormalities
35
short neck, low posterior hairline, limited movement of head Abnormal Cervical Vertebrae
Klippel-Feil sequence
36
Asymmetric Limb Hypertrophy Vascular Lesions (capillary and cavernous hemangiomas)
Klippel-Trenaunay Weber Syndrome
37
Small Triangular Facies Short Stature Congenital Asymmetry of the Skeleton 5th finger clinodactyly
Russell-Silver Syndrome
38
Unilateral Hypoplasia or absence of the pectoralis muscle
Poland Sequence
39
Pigmentary abnormalities: White Forelock, Partial Albinism + SNHL
Waardenburg Syndrome Autosomal Dominant
40
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
Thanatophoric dysplasia Autosomal Dominant
41
lower eyelid coloboma Down-slanting of palpebral fissures mandibular hypoplasia dysmorphic ears malar hypoplasia Conductive Hearing Loss
Treacher Collins syndrome Facial anomalies are usually bilateral Autosomal Dominant
42
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)
Stickler syndrome AD mutation of type II collagen gene located at 12q13.11-q13.2 locus hereditary arthro-ophthalmopathy
43
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
Osteogenesis imperfecta syndrome AD Defect in Type 1 Collagen
44
Dysplastic Pulmonary Valve Pectus Excavatum Short or Webbed Neck Cryptorchidism Abnormalities in coagulation pathway (Increased risk for vWF disease) Inheritance? Gene?
Noonan Syndrome AD Abnormality Mapped to 12q12
45
Dilated Aorta Arachnodactyly Hyperextensible Joints Scoliosis Upward Lens Subluxation Inheritance pattern? Gene - Name and Mutation
Marfan Syndrome AD Abnormal Fibrillin Gene (15q21.1)
46
Camptodactyly (flexion of proximal interphalangeal joint) Facial—thick lips, deep-set eyes, prominent cupped ears
Trisomy 8
47
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
Trisomy 13
48
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
Achondroplasia AD - 80-90% result from new mutations
49
Hypertelorism Midface Hypoplasia Broad distal phalanx of thumb and big toe syndactyly Irregular craniosynostosis (Most commonly coronal)
Apert syndrome Increased risk with increased paternal age Due to mutation in fibroblast growth factor receptor 2 gene
50
Maxillary Hypoplasia, Shallow Orbits Premature craniosynostosis (coronal, lambdoid, sagittal sutures) Mental deficiency less common
Crouzon Syndrome Autosomal dominant with variable expression Due to different mutation in fibroblast growth factor receptor 2 gene
51
Vitamin B1 (thiamine)
Beriberi (symptoms include fatigue, irritability, constipation, cardiac failure) Associated with pyruvate dehydrogenase complex deficiency and maple syrup urine disease
52
Vitamin B2 (riboflavin)
Failure to thrive, photophobia, blurred vision, dermatitis, mucositis Associated with glutaric aciduria type I
53
Vitamin B6 (pyridoxine)
Dermatitis, mucositis Hypochromic anemia, possible seizures Associated with homocystinuria
54
Biotin
Alopecia, dermatitis, scaling, seborrhea Associated with biotinidase deficiency, betamethylcrotonyl glycinuria, propionic acidemia, and pyruvate dehydrogenase complex deficiency
55
Vitamin C (ascorbic acid)
Poor wound healing and bleeding gums Associated with transient tyrosinemia
56
Vitamin D
Rickets Failure to thrive Possible tetany
57
Vitamin A (Retinol)
photophobia, conjunctivitis, failure to thrive, generalized scaling, abnormal epiphyseal bone formation, and/or abnormal tooth enamel
58
Vitamin E
Hemolysis, Anemia, Reticulocytosis
59
Which components are preserved in the pasteurization process?
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
Chromium Deficiency
Function: Regulates glucose levels because of role in insulin Effects In animals – diabetes, renal issues In humans – unknown
61
Copper
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
Iron
Absorbed predominantly in the duodenum and proximal jejunum Deficiency: Anemia (microcytic, hypochromic) Failure to thrive
63
Manganese
Role in enzyme activation Important for normal bone structure Role in CHO metabolism Deficiency: Unknown
64
Selenium
Cofactor for glutamine peroxidase Deficiency In animals – muscle disease In humans – cardiomyopathy
65
Zinc
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
Pancreatic amylase Present at __ weeks’ gestation __ amounts produced __ secretion at birth
Present at 22 weeks’ gestation Adequate amounts produced Decreased secretion at birth
67
Glucoamylase ___ action at birth Located in the __ Action
Normal action at birth Located in the intestinal brush border Removes glucose from end of starch
68
Intestinal disaccharidases
All except lactase reach adult levels at 28 weeks’ gestation Glucosidases = sucrase, maltase, isomaltase
69
Colonic bacteria
Helps ferment malabsorbed CHO to acids, which are absorbed in colon (system called colonic savage pathway)
70
Lactase
Adult levels at 36 weeks’ gestation Colonic salvage pathway helps limit CHO malabsorption
71
Whey:Casein Ratios
Whey:Casein Ratio Colostrum : 80:20, Mature Breast Milk: 55:45 Preterm Formula: 60:40
72
EEG Findings at 27-28 weeks
Discontinuous Long periods of quiescence occasionally interrupted by synchronous bursts No EEG response to external stimuli
73
EEG Findings at 29 - 30 weeks
Discontinuous Asynchronous activity Appearance of “delta brushes” in central region and temporal theta bursts
74
EEG Findings at 31 - 33 weeks
Continuous activity Predominantly asynchronous with synchrony during active sleep “Delta brushes” over occipital and temporal areas
75
EEG Findings at 34 - 35 weeks
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
EEG Findings at 36 - 37 weeks
Continued improvement in continuous and synchronous activity Able to differentiate between awake state and sleep “Delta brushes” disappear from central region
77
EEG Findings at 38 - 40 weeks
Continuous activity in quiet and active sleep and during awake state Synchrony activity predominates “Delta brushes” of occipital region disappears
78
Lowe Syndrome
Oculocerebrorenal Syndrome - Ophthalmic, Cerebral, Renal, and GU manifestation Dx: Elevated AFP + Elevated nucleotide pyro-phosphate in skin fibroblasts
79
Barter Syndrome
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
Gittleman Syndrome
Defect in Na-Cl cotransporter in the distal tubule (mimic thiazine diuretics) Presentation: hypokalemia, hypertension, elevated renin and aldosterone. Urine Calcium is low
81
Liddle Syndrome
Defect: ENaC channel mutation leading to elevated sodium reabsorption Presentation: Hypertension, Hypernatremia, Metabolic alkalosis, Hypokalemia. Decreased renin and aldosterone
82
Most common cause of abdominal mass in the newborn
Multicystic Dysplastic Kidney; many involute so the many may not be present 20-40% with GU anomalies
83
Renal agenesis occurs as a result of failure of development of the ___ Renal Dysplasia?
1) Ureteric Bud 2) Ureteric bud forms but does not interact with the undifferentiated mesoderm
84
Inducers of the P450 Cytochrome System
Dexamethasone Phenobarbital Phenytoin Rifampin
85
ACE Side-Effects
Oligohydramnios Renal failure Lung hypoplasia Skull ossification defects
86
Methimazole side-effect
Cutis aplasia Choanal atresia Esophageal atresia TEF
87
Βeta-blockers (Propranolol) side-effect
Fetal bradycardia Hypoglycemia Possibly fetal growth restriction
88
Carbamazepine side effect
Neural tube defects Craniofacial defects Hemorrhagic disease of the newborn Developmental delay
89
Henry’s law
At a constant temperature, any gas physically dissolves in a liquid in proportion to its partial pressure
90
Boyle's law
At a constant temperature, a given volume of gas varies inversely to the pressure to which it is subjected
91
Charles' Law
Gasvexpands as it is warmed and shrinks as it is cooled
92
Dalton's Law
the total pressure exerted by a mixture of gases is equal to the sum of the partial pressure of each gas
93
Fick’s law
transfer of solute by diffusion is directly proportional to the cross-sectional area available for diffusion
94
Dilated cardiomyopathy proximal muscle weakness neutropenia pre‐pubertal growth delay Inheritance?
Barth Syndrome X-Linked Recessive
95
Oculocutaneous albinism Pyogenic infections Easy bruising Nystagmus Peripheral neuropathy
Chediak-Higashi lysosomal trafficking regulator defect leading to decreased phagocytosis Autosomal recessive Large intracytoplasmic granules in WBCs in bone marrow; bone marrow transplant only cure
96
Failure  to  thrive,  early  onset  hypotonia progressive  microcephaly retinochoroidal dystrophy neutropenia
Cohen Syndrome
97
thrombocytopenia infections (bacterial, viral, fungal) eczema
Wiskot-Aldrich X-Linked Recessive
98
Exocrine  pancreatic  insufficiency Skeletal  abnormalities  Bone  marrow  dysfunction Inheritance
Schwann-Diamond Syndrome Autosomal Recessive
99
Watery diarrhea Endocrinopathy (Neonatal IDM, Hypothyroidism) Eczematous dermatitis
IPEX Syndrome
100
Small tonsils/lymph nodes Recurrent  bacterial  infections 
X‐linked agammaglobulinemia
101
Normal to Elevated levels of IgM Low to Absent IgG, IgA, IgE Perirectal abscess, Oral ulcers Opportunistic Infections
Hyper IgM syndrome
102
Leukocytosis Recurrent infections without pus Delayed separation of umbilical cord
Leukocyte adhesion deficiency AR
103
Severe, recurrent infections with Catalase + Oragnisms
Chronic Granulomatous Disease Peri-rectal abscess can be a buzz word Abnormal nitro blue tetrazolium test (doesn’t turn blue)
104
Most common neutrophil deficiency
Myeloperoxidase deficiency Usually clinically asymptomatic
105
Pathologic findings on liver biopsy 1) Neonatal Idiopathic Hepatitis 2) Biliary Atresia 3) Alagille Syndrome 4) Sclerosing Cholangitis 5) Alpha-1-antitrypsin def
1) Multinucleated Giant Cells 2) Bile Duct Proliferation 3) Bile Duct Paucity 4) Necroinflammatory duct lesions 5) Intrahepatocytic Globules
106
Neonatal Cholestasis Renal Anomalies Butterfly Vertebrae Posterior Ocular embryotoxon Peripheral Pulmonic Stenosis Mutation
Alagille Syndrome JAG-1 mutation
107
Fever Splenomegaly Cytopenia Low Fibrinogen High Triglyceride High Ferritin Hemophagocytosis High IL-2 Activity Low NK Cell Activity
Hemophagocytic Lymphohistiocytosis Molecular Dx: Perforin, hMUNC 13-4 Tx: SCT
108
Placental Transfer by Facilitated Diffusion
Glucose
109
Placental Transfer by Simple Diffusion
Na, Cl, H20, Oxygen, CO2, Fat-Soluble Vitamins
110
Placental Transfer by Active Trasport
Amino Acids, Water-Soluble Vitamins, Mg, Ca, Phos, Fe, Iodide
111
Hyperinsulinemia labs
Elevated Insulin, C-Peptide Low Urine Ketones, Lactate, FFA, and Beta-Hydroxybutyrate
112
Transport Mechanism 1) Fructose 2) Galactose
1) Glut-5 2) SGLT-1
113
Excess Issues 1) Chromium 2) Copper 3) Manganese
1) Renal Issues 2) Liver Toxicity 3) CNS Issues
114
Preterm vs Term breastmilk
Preterm has: - Higher LC-PUFA, Sodium, Chloride, Protein - Lower Lactose
115
Holman Ratio
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
Mother has acute fatty liver disease of pregnancy. What is the fetal dx?
LCHAD
117
Impaired oxidation long chain FA
Zellweger Syndrome (Peroxisomal Disorder) Presents with Hepatocerebrorenal syndrome
118
Vitamin B12 deficiency
Macrocytic Anemia, Hypersegmented Neutrophils Vit B12 + Bile Acids are absorbed in the distal ileum
119
Normal B/T cells Low IgG
Transient Hypogammaglobulinemia of Infancy Nadir at 2-4 months
120
PFIC
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
Preterm vs Term Formula
Preterm Formula has: More Protein, Calcium, MCT Lower Lactose Preterm Formulas are not hyperosmolar
122
Mutation to avoid Gentamicin
MT-RNR 1 gene Maternal Transmission (mitochondrial) Affects cochlear hair cells (SNHL)
123
Primary Neurulation
Brain and spinal cord (except lower sacral segment), 3-4 weeks gestation Abnormalities: anencephaly, encephalocele, myelomeningocele, Arnold-Chiari malformation
124
Secondary Neurulation
Spinal cord and lower sacral segments, 4-7 weeks gestation Abnormalities: spinal cysts, tethered cord, lipoma, teratoma, myelocystocele, meningocele-lipomenigocele
125
Prosencephalic stage
2-3 months gestation Abnormalities: aprosencephaly, holoprosencephaly, agenesis of corpus callosum, agenesis/absence septum pellucidum, septo-optic dysplasia
126
Glial proliferation
3-4 months gestation Abnormalities: Micrencepaly, macrencephaly
127
Neuronal migration
3-5 months gestation Abnormalities: Schizencephaly, lissencephaly, pachygyria, polymicrogyria
128
Hypotonia Eye anomalies Brain anomalies
Walker-Walburg Syndrome AR Congenital muscular dystrophy syndrome
129
Hypertelorism Vertical groove in the middle of the face Ocular anomalies Cleft lip/palate Encephalocele
Frontonasal Dysplasia
130
Imperforate Anus Thumb abnormalities Dysplastic Ears Inheritance? Gene Mutation?
Townes-Brocks Syndrome AD SALL1 Gene Mutation
131
Seizure within the first week of life Family hx of seizure that resolved
Benign Neonatal Familial Epilepsy AD mutation altering voltage-gated potassium channels
132
Prenatal Screen Timings 1) Quad Screen
1) 14-20 weeks
133
Warfarin Exposure
Depressed Nasal Bridge Nasal Hypoplasia Stippled Bone Epiphysis LBW Seizure activity
134
Foremilk vs Hindmilk
Foremilk has: 1) More lactose 2) Less Fat 3) Equal Protein

MT Genetics (2 decks)

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