Term
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Definition
| •GENES THAT ARE LOCATED AT THE SAME LEVEL IN THE 2 CHROMOSOMES OF A PAIR AND THAT DETERMINE THE SAME FUNCTIONS OR CHARACTERISTICS |
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Term
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Definition
•ORGANIC COMPOUND CONTAINING AN AMINO GROUP NH2
•MAIN COMPONENT OF PROTEINS |
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Term
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Definition
| •NONSEX CHROMOSOMES, WHICH ARE IDENTICAL FOR MEN AND WOMEN |
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Term
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Definition
| •CONDENSED CHROMATIN OF THE INACTIVATED X CHROMOSOME, WHICH IS FOUND AT THE PERIPHERY OF THE NUCLEUS OF CELLS IN WOMEN |
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Term
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Definition
| •HETEROZYGOUS INDIVIDUAL WHO IS CLINICALLY NORMAL BUT WHO CAN TRANSMIT A RECESSIVE TRAIT |
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Term
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Definition
| •CONSTRICTED PORTION OF THE CHROMOSOME THAT DIVIDES THE SHORT ARMS FROM THE LONG ARMS |
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Term
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Definition
| •EITHER OF THE TWO VERTICAL HALFES OF THE CHROMOSOME THAT ARE CONNECTED AT THE CENTROMERE |
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Term
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Definition
| •GENERAL TERM FOR A MATERIAL (DNA) THAT FORMS THE CHROMOSOMES |
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Term
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Definition
| •STRUCTURES LOCATED IN THE NUCLEUS OF CELLS AND ON WHICH GENES ARE FOUND |
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Term
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Definition
| •SEQUENCE OF THREE BASES IN DNA THAT ENCODES AN AMINO ACID |
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Term
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Definition
•BLOOD RELATIONSHIP
•MATING OR MARRIAGE BETWEEN RELATIVES |
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Term
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Definition
•DNA
•COMPOSED OF A DOUBLE CHAIN OF POLYNUCLEOTIDES WHICH COIL AROUND A CENTRAL AXIS TO FORM A HELIX |
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Term
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Definition
•HAVING TWO SETS OF CHROMOSOMES
•THE NORMAL CONSTITUTION OF SOMATIC CELLS |
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Term
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Definition
•TRAIT OR CHARACTERISTIC THAT IS MANIFESTED WHEN IT IS CARRIED BY ONLY ONE OF A PAIR OF HOMOLOGOUS CHROMOSOMES
•GENE CAN EXPRESS ITS EFFECT CLINICALLY WITH A SINGLE DOSE AS IN COMBINATION |
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Term
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Definition
| •DEGREE OF CLINICAL MANIFESTATION OF A TRAIT (HOW BADLY INDIVIDUALS ARE EFFECTED) |
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Definition
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Term
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Definition
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Term
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Definition
| •HEREDITARY UNITS TRANSMITTED FROM ONE GENERATION TO ANOTHER |
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Term
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Definition
| •HAVING MORE THAN ONE INHERITANCE PATTERN |
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Term
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Definition
•HAVING A SINGLE SET OF CHROMOSOMES
•A GAMETE IS HAPLOID |
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Term
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Definition
| •INDIVIDUAL WITH 2 DIFF. GENES AT THE ALLELE LOCI |
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Term
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Definition
| •INDIVIDUAL HAVING IDENTICAL GENES AT THE ALLELE LOCI |
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Term
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Definition
| •CONDITION IN WHICH THERE IS GREATER THAT NORMAL DISTANCE BETWEEN 2 PAIRED ORGANS |
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Term
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Definition
•FEWER THAN NORMAL TEETH
•AKA: PARTIAL ANODONTIA |
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Term
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Definition
| •ABNORMALLY DIMINISHED SECRETION OF SWEAT |
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Term
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Definition
| •PRESENCE OF LESS THAN THE NORMAL AMOUNT OF HAIR |
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Term
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Definition
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Term
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Definition
| •PHOTOMICROGRAPHIC REPRESENTATION OF A PERSON'S CHROMOSOMAL CONSTITUTION ARRANGE ACCORDING TO THE DENVER CLASSIFICATION |
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Term
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Definition
| •POSITION OCCUPIED BY A GENE ON A CHROMOSOME |
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Term
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Definition
•DIVIDES TWICE
•ONLY IN REPRODUCTIVE CELLS |
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Term
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Definition
| •PHASE IN WHICH THE CHROMOSOMES ARE LINED UP EVENLY ALONG THE EQUATORIAL PLANE |
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Term
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Definition
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Term
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Definition
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Term
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Definition
•DIVIDES ONCE FOR THE REST OF YOUR LIFE
•FOR GROWTH AND REPAIR (REPLACING CELLS) |
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Term
| MULTIFACTORAL INGERITANCE |
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Definition
| •MORE THAN ONE GENETIC FACTOR INVOLVED (INCLUDING, SOMETIMES, ENVIRONMENTAL) |
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Term
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Definition
| •PERMANENT CHANGE IN THE ARRANGEMENT OF GENETIC MATERIAL |
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Term
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Definition
•CHROMOSOMES CROSSING OVER DO NOT SEPARATE AND BOTH MIGRATE TO THE SAME CELL
•EX: DOWN SYNDROME (3 OF CHROMOSOME 21 ARE FOUND) |
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Term
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Definition
| •CONDITION IN WHICH MORE THAN 6 TEETH ARE DEVELOPMENTALLY ABSENT |
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Term
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Definition
| •FORMATION OF FEMALE GERM CELLS (OVA) |
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Term
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Definition
| •MATURE FEMININE GERM CELL (EGG) |
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Term
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Definition
| •NUMBER OF INDIVIDUALS EFFECTED |
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Term
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Definition
•OBSERVABLE APPEARANCE
•PHYSICAL, BIOCHEMICAL, AND PHYSIOLOGICAL TRAITS |
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Term
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Definition
| •TEETH DEVELOP, BUT DO NOT ERUPT |
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Term
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Definition
| •TRAIT OR CHARACTERISTIC THAT SHOWS CLINICALLY WHEN A DOUBLE-GENE DOSE EXISTS |
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Term
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Definition
•RNA
•SINGLE STRANDS OF POLYNUCLEOTIDES FOUND IN ALL CELLS
•RNA SYNTHESIS INVOLVES SEPARATION OF DNA STRANDS AND SYNTHESIS OF AN RNA MOLECULE |
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Term
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Definition
| •CYTOPLASMIC ORGANELLES IN WHICH PROTEINS ARE FORMED |
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Term
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Definition
| •FORMATION OF SPERMATOZOA (SPERM) |
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Term
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Definition
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Term
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Definition
| •SET OF SIGNS OR SYMPTOMS OCCURING TOGETHER |
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Term
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Definition
| PORTION OF A CHROMOSOME ATTACHED TO ANOTHER CHROMOSOME |
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Term
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Definition
| •PAIR OF CHROMOSOMES WITH AN IDENTICAL EXTRA CHROMOSOME |
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Term
| WHAT ARE THE MOST COMMON CHARACTERISTICS OF TRISOMY? |
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Definition
•SLANTED EYES
•MORE THAN 30% HAVE HEART ABNORMALITIES
•FISSURED TONGUE
•GINGIVAL AND PERIODONTAL DISEASE |
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Term
| WHAT ALLELIC GENES ARE IDENTICAL, THE PERSON IS ______________ FOR THAT GENE |
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Definition
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Term
| WHEN ALLELIC GENES ARE DIFFERENT, THE PERSON IS ______________ FOR THAT GENE |
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Definition
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Term
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Definition
| •THE DIVISION OF THE CELL ITSELF |
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Term
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Definition
| •ALL THE CELLS OF THE BODY EXCEPT SPERM AND OVA |
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Term
| WHAT IS THE MITOTIC CYCLE? |
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Definition
•MITOTIC DIVISION
•G1
•S (REPLICATION)
•G2
•MITOTIC DIVISION |
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Term
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Definition
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Term
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Definition
•ONLY IN WOMEN
•EARLY IN DEVELOPMENT, ONE OF THE X CHROMOSOMES IS RANDOMLY INACTIVATED
•THE INACTIVATED CHROMOSOME FORMS A CONTRACTED STRUCTURE KNOWN AS BARR BODY |
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Term
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Definition
•MUTATIONS
•OCCUR AT DNA LEVEL
•NOT DETECTABLE MICROSCOPICALLY
•MOST ARE INHERITED |
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Term
| GROSS CHROMOSOMAL ABNORMALITIES |
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Definition
•YOU ARE BORN WITH IT
•CAUSED BY EITHER ALTERATIONS IN CHROMOSOME NUMBERS OR ALTERATIONS IN STRUCTURE
•CAN BE OBSERVED IN KARYOTYPES |
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Term
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Definition
•COMPLETE 2ND SET OF CHROMOSOMES (92)
•INCOMPATIBLE WITH LIFE |
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Term
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Definition
•3 OR 4 COMPLETE SETS OF CHROMOSOMES
•INCOMPATIBLE WITH LIFE |
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Term
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Definition
•ANY EXTRA AMOUNT OF CHROMOSOMES THAT DO NOT REPRESENT A MULTIPLE OF TOTAL CHROMOSOMES
•EX: TRISOMY |
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Term
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Definition
•DOWN SYNDROME
•MOST FREQUENT OF TRISOMIES |
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Term
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Definition
•CHARACTERIZED BY MULTIPLE ABNORMALITIES IN VARIOUS ORGANS
•70 OF BABIES BORN DIE WITHIN THE 1ST 7 MONTHS OF LIFE
•BILATERAL CLEFT LIP AND PALATE IS COMMON
•SMALL OR NO EYES IS ALSO COMMON
•MANY OTHER CHARACTERISTICS |
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Term
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Definition
•FEMALE PHENOTYPE
•MOST CASES ARE THE RESULT OF NONDISJUNCTION OF THE X CHROMOSOME IN THE PATERNAL GAMETE (ONLY ONE X CHROMOSOME)(XO)
•CHARACTERISTICS INCLUDE:
-SHORT STATURE
-WEBBING OF NECK
-EDEMA OF HANDS AND FEET
-LOW HAIRLINE ON NAPE OF NECK
-BROAD CHEST WITH WIDE-SPACED NIPPLES
-BODY HAIR IS SPARSE
•SMEARS TAKEN SHOW LACK OF BARR BODIES |
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Term
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Definition
•OCCURS WHEN AN OVUM CARRYING TWO X CHROMOSOMES IS FERTILIZED BY A SPERM WITH A Y CHROMOSOME (XXY OR XXXY OR XXXXY)
•AFFECTED INDIVIDUALS HAVE A MALE PHENOTYPE
•CANNOT BE DETECTED UNTIL AFTER PUBERTY
•CHARACTERISTICS INCLUDE:
-TALL STATURE
-WIDE HIPS
-FEMALE PUBIC HAIR DISTRIBUTION
-50% HAVE DEVELOPMENT OF BREASTS
-10% HAVE LOWER INTELLIGENCE LEVELS
-PENIS APPEARS NORMAL, BUT THE TESTES ARE SMALLER AND HARDER THAN NORMAL
-MAXILLA IS SLIGHTLY HYPOPLASTIC |
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Term
| WOMEN HAVE ___ CHROMOSOMES |
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Definition
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Term
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Definition
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Term
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Definition
•STRIKES OUT OF THE BLUE
•1 OUT OF 10 RUNS IN THE FAMILY |
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Term
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Definition
•AUTOSOMAL DOMINANT CONDITION
•21 DAY DECREASE IN NEUTROPHILS
•SYMPTOMS:
-FEVER
-MALAISE
-SORE THROAT
-OCCASIONAL CUTENEOUS INFECTIONS
•SEVERE ULCERATIVE GINGIVITIS (REPEATED EPISODES LEAD TO PERIODONTITIS) |
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Term
| PAPILLON-LEFEVRE SYNDROME |
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Definition
•DESTRUCTION OF PERIO TISSUE AND HYPERKERATOSIS OF HANDS AND FEET
•GENERALIZED PERIO LEADS TO EARLY LOSS OF TEETH
•THERE IS NO CURE |
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Term
| FOCAL PALMOPLANTAR AND GINGIVAL HYPERKERATOSIS |
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Definition
•AREAS OF HYPERKERATINIZATION OF THE PALMS AND SOLES AND HYPERKERITINIZATION OF THE LABIAL AND LINGUAL GINGIVA
•THIS SYNDROME HAS AN AUTOSOMAL-DOMINANT INHERITANCE PATTERN |
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Term
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Definition
•COMPONENT OF SEVERAL INHERITED SYNDROMES
•ENLARGEMENT IS PAINLESS, SLOWLY PROGRESSIVE, AND DEPENDS ON ORAL HYGIENE |
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Term
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Definition
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Term
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Definition
•MARKED PENETRANCE IN MALES
•VARIABLE EXPRESSITIVITY AND INCOMPLETE PENETRANCE IN FEMALES
•SOAP BUBBLE APPEARANCE IN THE JAW
•NEVER EFFECTS THE CONDYLES
•MOST PEOPLE HAVE PSUEDOANODONTIA |
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Term
| ELLIS-VAN CREVELD SYNDROME |
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Definition
•CHONDROECTODERMAL DYSPLASIA
•SHORT LIMBED DWARFISM
•CONGENITAL HEART DISEASE
•ANTERIOR MAXILLARY VESTIBULAR SULCUS IS LACKING
•CENTRAL INCISORS ARE DIFFERENT LOOKING |
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Term
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Definition
•OPEN FONTANELLES (MUSHROOM SHAPED CRANIUM)
•NO CLAVICLES |
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Term
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Definition
•AKA: FAMILIAL COLORECTAL POLYPOSIS
•EXPRESSIVITY AND MARKED PENETRANCE
•OSTEOMAS IN VARIOUS BONES
•POLYPS IN INTESTINES THAT MAY BECOME MALIGNANT |
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Term
| MANDIBULOFACIAL DISPLASIA PATIENTS ARE ________ |
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Definition
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Term
| NEVOID BASAL CELL CARCINOMA SYNDROME |
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Definition
•AKA: GORLIN SYNDROME
•BASAL CELL CARCINOMAS
•MULTIPLE CYSTS OF THE JAWS THAT ARE ODONTOGENIC KERATOCYSTS |
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Term
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Definition
•EFFECT COLLAGEN - RESULTING IN WEAK BONES
•EFFECTS DENTIN |
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Term
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Definition
•VARIABLE SIZE
•CAN BE UNI OR MULTILOCULAR |
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Term
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Definition
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Term
| CLEFT PALATE CAN OCCUR _________________ |
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Definition
| •BY ITSELF OR WITH SYNDROMES |
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Term
| MULTIPLE MUCOSAL NEUROMA SYNDROME |
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Definition
| •BUMPS (NEUROMAS) ON TONGUE AND LIPS |
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Term
| NEUROFIBROMATOSIS OF VON RECKLINGHAUSEN |
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Definition
| •MULTIPLE NEUROFIBROMAS APPEARING AS PAPULES AND GROWTHS OF VARIOUS SIZES ON THE SKIN |
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Term
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Definition
•MACULES OF SKIN AND MUCOSA
•ASSOCIATED WITH GI POLYPOSIS |
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Term
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Definition
•AKA: CANNON DISEASE
•WHITE, CORRUGATED, SOFT, FOLDING ORAL MUCOSA |
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Term
| WHAT ARE THE 4 TYPES OF AMELOGENISIS IMPERFECTA? |
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Definition
TYPE I: HYPOPLASTIC - (SIMPLEST) TOOTH ENAMEL DOES NOT DEVELOP TO NORMAL THICKNESS
TYPE II: HYPOCALCIFIED - HAS NORMAL THICKNESS BUT IS POORLY CALCIFIED
TYPE III: HYPOMATURATION - MOTTLED APPEARANCE BUT NORMAL THICKNESS
TYPE IV: HYPOPLASTIC-HYPOMATURATION - ASSOCIATION WITH TUARODONTIC TEETH. THIS ENAMEL THAT IS YELLOW AND PITTED |
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Term
| DENTINOGENISIS IMPERFECTA |
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Definition
•HEREDITARY OPALESCENT DENTIN
•PULP CHAMBERS ARE OBLITERATED
•ENAMEL IS NORMAL |
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Term
| HYPOHIDROTIC ECTODERMAL DYSPLASIA |
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Definition
•MAJOR COMPONENTS ARE:
-HYPODONTIA
-HYPOTRICHOSIS
-HYPOHIDROSIS |
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Term
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Definition
•KIDS CAN SUFFER FROM BOTH
•ADULTS ONLY SUFFER FROM OSTEOMALACIA |
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Definition
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