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Chromosome Locations Flashcards

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1
Q

Wolf Hirschhorn

A

4p16.3

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2
Q

Cri-du-chat

A

5p15.3

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3
Q

Williams

A

7q11.23 (submicroscopic), can be missed by karyotype, need CMA

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4
Q

WAGR

A

Wilms, aniridia, GU, DD

11p13

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5
Q

Beckwith Wiedemann

A

11p15.5
KCNQOTI and H19

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6
Q

Prader Willi/Angelman

A

15q11.2-q13.1

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7
Q

Smith Magenis

A

17p11.2

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8
Q

Miller Dieker

A

17p13.3

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9
Q

NF1

A

17q11.2
Neurofibromin
Women increased risk of breast cancer and should have enhanced screening between 30-50 years

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10
Q

Sotos

A

5q35
NSD1
MLPA or FISH

macrocephaly, pointed chin, tall, obesity, DD, advanced bone age

sometimes seizures, psych, AOM, constipation, risk of tumors (~1%, no screen recommended)

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11
Q

Transient Neonatal DM

A

Paternal UPD 6
Imprinting 6q24

HYMAI, PLAGL1

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12
Q

Silver Russell

A

Maternal UPD 7
Imprinting 11p
Structural chromosome aberration

Hypomethylation of the paternal IC1 site on chromosome 11 explains about 45% of cases of Russell-Silver syndrome

macrocephaly, hypospadias, delayed bone age

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13
Q

BWS

A

Imprinting 11p
Paternal UPD 11p
Gene change, ex CDKN1C
Paternal duplication, inv, translocation

Gain of methylation or microdeletion of the maternal IC1 site of chromosome 11

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14
Q

Maternal UPD 14

A

SS, hypotonia, precocious puberty, truncal obesity, variable psychomotor retardation

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15
Q

Paternal UPD 14

A

Severe psychomotor retardation, polyhydramnios, finger contractures, bell shaped thorax with coat hanger sign ribs

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16
Q

PWS

A

Microdeletion (70%)
Maternal UPD 15 (25%)
Imprinting

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17
Q

Angelman

A

Microdeletion (70%)
Paternal UPD 15 (1-3%)
UBE3A mutation (5-10%)
Imprinting (3-5%)

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18
Q

Juvenile Polyposis Coli

A

BMPR1A
SMAD4 - also HHT

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19
Q

Peutz Jeghers

A

STK11
50% del
45% truncating

Risk of intussusception at any age!

Lifetime cancer risk 81%, mostly GI, CRC, esophageal, pancreatic
32% breast cancer risk

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20
Q

GREM1 Polyposis

A

5’ 40kb duplication
Mixed Polyposis with adentomatous, juvenile, and hyperplastic

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21
Q

Lynch

A

Also known as hereditary non Polyposis colon cancer (HNPCC)

CRC, endometrial, bile duct, ovarian, ureteral, and gliomas

PMS2, EPCAM, MSH2 and MLH1

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22
Q

Breast-Ovarian

A

BRCA1/2

BRCA2 < BRCA1 for ovarian

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23
Q

Cowden

A

PTEN syndromic features
Thyroid
Breast

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24
Q

Hereditary Breast Cancer

A

PALB2
CHEK2
ATM heterozygotes (colon, pancreatic, breast)

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25
Q

Breast+Gastric

A

CDH1
With or without cleft palate

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26
Q

Ovarian

A

RAD51C

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27
Q

BRCA2

A

Male breast cancer
Pancreatic
Prostate
Melanoma

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28
Q

Bloom

A

AR, BLM
SS, photosensitive skin, immunodeficiency
Leukemia, lymphoma, solid tumors

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29
Q

Werner

A

AR, WRN
Premature aging, cataracts, diabetes, atherosclerosis
Soft tissue sarcomas and skin cancers

DNA helicase defect (stop codon causing nonsense or frameshift)

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30
Q

NF2

A

Chromosome 22 for merlin

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31
Q

Schwannomatosis

A

Chromosome 22
SMARCB1 or LZTR1

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32
Q

Parkinson Disease

A

GBA1 - late onset
SNCA - alpha synuclein, AD
LRRK2 - onset >50, incomplete penetrance, AD
PRKN - early onset, AR
DNAJC6 - juvenile onset, DD, seizures, AR
TAF1 - XLR

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33
Q

DYT5

A

Dystonia, AD
DOPA responsive
Also DNAJC12 and SLC18A2

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34
Q

Huntington Repeats

A

General Population <26 repeats
Intermediate 27-35
HD = 36+
Reduced penetrance 36-39 repeats
CAG
Paternal inheritance in some cases is associated with the juvenile presentation of Huntington disease, with rigidity

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35
Q

Fragile X

A

CGG
200+ repeats
55-200 = can expand

80% have ADHD

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36
Q

GAA

A

Friedreich Ataxia

GAA expansions usually 90+, but in 300+ range
If one expansion and one normal, either a carrier or has the disease. To differentiate this, must point mutation analysis to confirm disease present.

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37
Q

CAG

A

HD
SCA
DRP atrophy
Spinal and bulbar atrophy

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38
Q

CTG

A

Myotonic dystrophy

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39
Q

Hereditary Spastic Paraplegia

A

AD: SPAST, ATLI, KIF5A, REEP1
AR: SPG11
XLR: L1CAM, PLP1

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40
Q

Myotonic Dystrophy

A

CTG repeat expansion in DMPK gene

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41
Q

Facioscapulohumeral Dystrophy

A

Weakness in facial and girdle muscles, retinal vasculopathy, sensorineural hearing loss, extreme lordosis
DUX4 gene on 4q
D4Z4 reduced number of repeats causes issues
>12 repeats normal
10-11 reduced penetrance
<9 full penetrance

42
Q

PCR Steps

A

Denaturation
Annealing primer to ssDNA
Extension/synthesis
Copies after n cycles

43
Q

Menkes vs Wilsons

A

ATP7A - Menkes
ATP7B - Wilson

44
Q

Hereditary hemochromatosis

A

C282Y and H63D in HFE

Prussian blue staining, Kupffer cells in hepatocytes

45
Q

ADHD

A

VNTR

46
Q

Asperger

A

GABRB3

47
Q

Multiple pterygium syndrome

A

Acetylcholine receptor mutation on 2p37

48
Q

Trimethylaminuria

A

Dimethylglycine dehydrogenase deficiency

49
Q

Repeat Expansion Disorders: Locations of mutations within the gene

A

Fragile X - expansion in promotor region of 5’ UTR
Friedreich ataxia - intron
Huntington and spinocerebellar - exons
Myotonic dystrophy - 3’ UTR

50
Q

Torsion Dystonia

A

GAG deletion in DYT1 gene

51
Q

Simpson Golabi Behmel

A

Coarse facies
Postaxial polydactyly
Macrosomia
Cardiac conduction defects

52
Q

Mutations in Cancer Risk: Down Syndrome, Proteus Syndrome, ETV6, IKZF1, and RUNX1

A

Somatic GATA1 mutations are seem in almost all cases of TMP which is a frequent complication of children with Down syndrome.

AKT undergoes somatic mutation in Proteus syndrome

ETV6 is a translocation partner in AML

IKZF1 mutations and deletions are common in ALL

RUNX1 deletions and mutations cause familial platelet disorder with AML

53
Q

Dyskeratosis Congentia

A

leukoplakia, abnormal nails and evidence of bone marrow failure
DKC have telomeres that are shorter than 1% for age

54
Q

Definitions: pleiotrophy, locus heterogeneity, and allelic heterogeneity

A

Locus heterogeneity refers to the production of identical phenotypes by mutations at two or more different loci. Ex. Disease that has multiple causative genes, such as OI, RP, Noonan, etc.

Pleiotropy refers to disorders in which a single gene or gene pair causes multiple phenotypes, especially when the effects are not obviously related. Ex. Marfan, Holt Oram, etc.

Allelic heterogeneity refers to the situation when different alleles of a single gene produce the same/similar phenotypes. Ex. Beta thal, CF, PKU.

55
Q

Tay Sachs Detection in Prenatal Counseling: husband has affected sister and wife is not Jewish and no TS family hx

A

the BEST answer might be serum HexA on husband (+/- molecular) and WBC hexA on the wife. The major points of this question are (1) serum hexA is not accurate during pregnancy and one needs to do WBC hexA determinations and (2) molecular testing is not helpful in the non-Ashkenazi Jewish population since most mutations will not be detected.

56
Q

SCID Genes

A

ZAP70 causes AR SCID

IL2RG mutations are found in > 99% of males with SCID

57
Q

HOXA13

A

Hand-foot-uterus syndrome is due to mutations in HOXA13

58
Q

Saathre Chotzen

A

TWIST1

Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear.

59
Q

Witkop Syndrome

A

MSX1
Ectodermal dysplasia - thin, friable nails
Normal hair, able to sweat

60
Q

Gorlin Syndrome Cancers

A

Basal cell skin cancer
Medulloblastoma

61
Q

CPTI vs CPTII

A

CPTI - presents with liver disease

CPTII - rhabdo with strenuous exercise, high CK, renal (+myoglobinuria), usually presents later in life

62
Q

MENI, MENIIA, MENIIB

A

MENI - parathyroid, pancreatic, pituitary

MENIIA - thyroidectomy is recommended to be performed by age 5; parathyroid, medullary thyroid, and pheochromocytoma

MENIIB - prophylactic thyroidectomy is recommended by age 1; marfan habitus, pheochromocytoma, medullary thyroid

63
Q

Stickler Syndrome

A

AD
retinal detachment
Robin sequence in infants
Arthropathy, juvenile rheumatoid arthritis

64
Q

Ectodermal Dysplasia

A

Also known as hidrotic ectodermal dysplasia

EDAR = AR or AD
EDA1 = X linked

palmo-plantar hyperkeratosis, normal sweating and teeth

65
Q

Charcot Marie Tooth vs. Hereditary neuropathy with liability to pressure palsies (HNPP)

A

CMT: PMP22, 17p12 duplication

Hereditary neuropathy with liability to pressure palsies (HNPP): 17p12 deletion

66
Q

PTCH1

A

Gorlin sydrome

67
Q

SMARCB1

A

Results in rhabdoid tumor

68
Q

SUFU

A

medulloblastoma

69
Q

DICER1

A

pleuropulmonary blastoma, multinodular goiter (benign), and rhabdosarcoma

70
Q

The most common pathogenic variants that result in the disorder gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) represent which of the following mutational mechanisms?

A

Promotor region

GAPPS is a disorder with a specific genotype/phenotype relationship. It results from noncoding promoter variants that alter the YY1 transcription factor binding site in the APC promoter 1B. This disorder is distinct from familial adenomatous polyposis which can result from nonsense and other loss of function variants in APC.

71
Q

Fraser syndrome

A

Syndactyly, crytophthalmos, external ear abnormalities, midline nasal cleft, widely-spaced nipples, and cryptorchidism

72
Q

Fumarate hydratase cancer associations

A

hereditary leiomyomatosis with renal cell cancer (HLRCC) which is caused by heterozygous mutations (AD)

73
Q

CVID

A

TNFRSF13B (TACI)

74
Q

Spondyloepiphyseal dysplasia congenita

A

malar hypoplasia, cleft palate, decreased mobility of elbows, knees and hips and club feet but not macrocephaly or brachydactyly

75
Q

Pseudochondroplasia

A

short stature, normal facial appearance and brachydactyly but later onset than Hypochondroplasia

Cartilage oligomeric matrix protein

76
Q

Hypochondroplasia

A

Hypochondroplasia has short stature, macrocephaly, normal facial appearance and palate, short limbs and brachydactyly but no trident hand

77
Q

Multiple Epiphyseal Dysplasia

A

chronic hip and knee pain and decreased ROM of his hips and knees
May require early age hip and knee replacements

78
Q

AR disorders with significant malignancy risk

A

Some autosomal recessive disorders with substantial risk of malignancy are glycogen storage disease type I, tyrosinemia, hemochromatosis, and others less prominently. Immunodeficiency disorders and DNA repair disorders also relevant.

79
Q

Hypermutated colon cancer

A

POLE

80
Q

Dystrophic epidermolysis bullosum

A

Scarring in the dermis can be AD or AR and is associated with COL7A1 mutations (below basement membrane)

81
Q

Junctional Epidermolysis bullosum

A

AMB3 is associated with junctional EB, where severe scarring is in the basement membrane

82
Q

Simplex Epidermolysis bullosum

A

scarring in the basal layer (epidermis)
EXPH5
KRT14
TGM5

83
Q

Jervell and Lange-Nielsen

A

Jervell and Lange-Nielsen syndrome is associated with congenital deafness and long QT interval

KCNQ1/E1

84
Q

Meckel Syndrome

A

microcephaly, an occipital meningoencephalocele, renal cysts/polycystic kidneys and post-axial polydactyly

85
Q

Non-allelic homologous recombination (NAHR) Resulting disorders

A

22q11.2 del
Sotos

86
Q

Cardiomyopathy Dilated vs Hypertrophic

A

Hypertrophic: MYH7

Dilated: TTN

87
Q

Defective protein responsible for familial hypercholesterolemia

A

LDL receptor

88
Q

Joubert Syndrome

A

congenital ataxia, hypotonia, episodic breathing and intellectual disability
Renal dystrophy

89
Q

GALNT3-CDG

A

tumoral calcinosis with vascular calcification, painful ectopic periarticular calcification, increased renal tubular reabsorption of phosphate, retinal angioid streaks

90
Q

MPI-CDG

A

cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, and protein-losing enteropathy, and occasionally coagulopathy

91
Q

PGM1-CDG

A

dilated cardiomyopathy, chronic hepatitis, fatigue, and Pierre Robin sequence with cleft palate

92
Q

PMM2-CDG

A

microcephaly, prominent forehead, nystagmus, large ears, flat nasal bridge, thin upper lip as well as hypotonia, intellectual disability, seizures, cerebellar hypoplasia, liver disease, pericardial effusions and lipodystrophy

93
Q

Pallister Hall

A

hypothalamic hamartoblastoma, hypopitutarism, imperforate anus, and postaxial polydactyly

94
Q

Neu-Laxova

A

microcephaly or lisssencephaly, elfin-facies with exophthalmos, and syndactyly with subcutaneous edema

95
Q

Warburg Syndrome

A

agyria, cerebellar hypoplasia, Dandy-Walker cyst, microphthalmia, and retinal detachment with retinal dysplasia

96
Q

Ellis-van Creveld syndrome

A

rhizomelia, short and narrow chest, polydactyly, hypoplastic nails, fine hair, conical teeth, hypodontia

97
Q

OI Types I - IV

A

Type I. Mildest and most common type.
Type II. Most severe type.
Type III. Most severe type in babies who don’t die as newborns.
Type IV. Symptoms are between mild and severe

98
Q

Costello

A

HRAS

HCOM
neuroblastoma
rhabdomyosarcoma

99
Q

Fanconi Anemia

A

chromosome breakage syndrome -> triradial and quadriradial chromosomes

SS, hypogonadism, DD, abnormal pigmentation, progressive bone marrow failure, aplastic anemia, myelodysplastic syndrome, AML, ear, heart, CNS malformation, preaxial polydactyly

Avoid sun exposure

100
Q

Congenital Contractural Arachnodactyly

A

Beals syndrome, FBN2

severe contractures, crumpled ears, marfanoid, kyphosis/scoliosis, aortic dilation, malrotation, heart defects

101
Q

EDS Kyphoscoliotic Type

A

PLOD1

102
Q

Lowes Dietz

A

TGFBR1/2, SMAD3

Similar symptoms to vascular EDS, but with skeletal findings of Marfan (pectus)

Bifid uvula, cleft palate, hypertelorism

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