Term
| Osteogenesis Imperfecta mutation |
|
Definition
Type I: premature
termination codons and mRNA
stability, reduce by 1/2 the
number of alpa1 chains produced
Type II‐IV: Gly substitution
altering collagen structure.
Mutations in C terminal mess up
collagen assembly
and are more severe. Also some
splice site mutations |
|
|
Term
| Osteogenesis Imperfecta inheritance |
|
Definition
Mostly AD
only type III is
sometimes AR |
|
|
Term
| Osteogenesis Imperfecta clinical presentation |
|
Definition
Type I is mild, blue sclera,shorter
stature and hearing loss.
Type II, lethal, multiple fractures of
ribs, long bones compression and dark
blue sclera
Type III, Thin ribs and bones with
fracture, very short stature
Type IV, variable short stature, mild
to moderare bone deformity |
|
|
Term
|
Definition
Classic type I and II: COL5A1 and
COL5A2
Hypermobility type III: unknown or
TNXB (tenascin X) gene
Vascular type IV: COL3A1 |
|
|
Term
|
Definition
|
|
Term
| Ehlers‐Danos clinical presentation |
|
Definition
Classic: skin is highly extensible,
smooth, and velvety; there is delayed,
abnormal wound healing and
generalized tissue fragility;
hypermobility of joints; mitral valve
prolapsed
Hypermobility: affects mostly the
joints.
Vascular: rupture of organs (e.g.
intestine, uterus) and major blood
vessels may occur. |
|
|
Term
|
Definition
|
|
Term
| Marfan syndrome gene product |
|
Definition
Gene product: Fibrillin 1 protein
Glycoprotein, major
component of the extra
cellular matrix implicated
in the formation of elastic
fibers (ligaments, aorta
etc..) |
|
|
Term
| Marfan syndrome inheritance |
|
Definition
AD
75% inherited
25% sporadic |
|
|
Term
| Marfan syndrome clinical presentation |
|
Definition
Affect multiple connective tissues,
myopia and dislocation of the lens,
chest wall deformity, scoliosis, flat feet,
hypermobile joints, and a tall, lanky
body with long fingers and toes. Also
mitral valve prolapse and dilatation of
the aorta and aortic dissection. |
|
|
Term
Achondroplasia
(dwarfism) mutation |
|
Definition
| Gene mutation: FGFR3 gene |
|
|
Term
Achondroplasia
(dwarfism) gene product |
|
Definition
Gene product: Fibroblast growth
factor receptor type 3
protein (FGFR 3)
a transmembrane
tyrosine kinase involved
in cell signaling and
known to restrain
chondrocyte
proliferation and
differentiation |
|
|
Term
Achondroplasia
(dwarfism) mutation 2 |
|
Definition
Mutation/alteration: Two substitutions
(G1138A and G1138C)
resulting in constitutive
activation of the kinase in
absence of ligand.
Overactivation causes
inhibition of chondrocytes
growth and produce
skeletal defects |
|
|
Term
Achondroplasia
(dwarfism) inheritance |
|
Definition
AD with
complete
penetrance |
|
|
Term
Achondroplasia
(dwarfism) clinical presentation |
|
Definition
Short limbs due to abnormality of
cartilage formation. Characteristic
facies, with frontal bossing and
hypoplasia of the mid‐face, normal
intelligence, respiratory function may be
compromised by obstructive apnea and
brainstem compression. Fertility
problem, 80% of case have normal
parent (de novo mutations in parental
germ cells or early development) |
|
|
Term
Cranyosynostosis
syndromes (Pfeiffer,
Crouzon and Apert) mutations |
|
Definition
mutations: FGFR1
FGFR2
FGFR3 |
|
|
Term
Cranyosynostosis
syndromes (Pfeiffer,
Crouzon and Apert) gene product |
|
Definition
Gene product: Fibroblast growth
factor receptor type 1,
2 or 3 |
|
|
Term
Cranyosynostosis
syndromes (Pfeiffer,
Crouzon and Apert) inheritance |
|
Definition
de novo
mutation during
embryonic
development in
most cases,
otherwise AD |
|
|
Term
Cranyosynostosis
syndromes (Pfeiffer,
Apert, and Crouzon) clinical presentation |
|
Definition
All congenital syndromes with
premature fusion of one or multiple
cranial sutures that can cause
intracranial hypertension and abnormal
development of the facial skeleton.
*** has broad first digits, ***has
fused digits and *** has mild‐face
hypoplasia and occular proptosis |
|
|
Term
| (Patau's Syndrome) chromosome |
|
Definition
|
|
Term
| (Patau's Syndrome) mutation |
|
Definition
Aneuploidy
Extra Chromosome 13
(mostly from maternal nondisjunction.
Could be associated with
Robertsonian translocation 13q:14q) |
|
|
Term
| Trisomy 13/Patau's Syndrome clinical presentation |
|
Definition
Mental retardation, Clift lip and palate, rocker‐bottom feet, congenital Heart,
liver, brain diseases. Death in infancy.
High spontaneous abortion rate |
|
|
Term
| (Edwards Syndrome) chromosome |
|
Definition
|
|
Term
| (Edwards Syndrome) mutation |
|
Definition
Aneuploidy
Extra Chromosome 18
(mostly from maternal nondisjunction
and a small percentage
from mosaicism) |
|
|
Term
| Trisomy 18/ Edwards Syndrome clinical presentation |
|
Definition
Growth retardation and dysmorphic
features. Rocker‐bottom feet, small
birthweight, death in infancy. High
spontaneous abortion rate |
|
|
Term
| (Down Syndrome) chromosome |
|
Definition
|
|
Term
|
Definition
Aneuploidy
Extra Chromosome 21
(mostly from maternal nondisjunction
in meiosis I. Could result
from translocation with chromosome
14 and from tissue specific mosaic) |
|
|
Term
| (Down Syndrome)/Trisomy 21 clinical presentation |
|
Definition
Moderate to severe mental retardation,
flat occiput, furrowed tongue,simian
crease, short fingers and toes. Structural
heart defects, increased respiratory
infection and leukemia, early onset of
Alzheimer and male often sterile. |
|
|
Term
| (Klinefelter Syndrome) chromosome |
|
Definition
|
|
Term
| (Klinefelter Syndrome) mutation |
|
Definition
Aneuploidy
Extra Chromosome X due to non
disjonction.
(Karyotype mostly 47 XXY but
48 XXXY and 49 XXXXY have
been reported) |
|
|
Term
| XXY/Klinefelter Syndrome clinical presentation |
|
Definition
Male phenotype but small testes, low
levels of testosterone, sterile due to
seminiferous tubules atrophy.Tall, long
arms and legs, sparse body hair and
breast development. Learning disability
but no retardation. |
|
|
Term
|
Definition
Aneuploidy
Extra Chromosome Y due to
paternal non disjunction in
meiosis II
Karyotype 47 XYY |
|
|
Term
| XYY clinical presentation |
|
Definition
male phenotype and fertile. Learning
disabilities, behavioral problems and
relative tall stature. |
|
|
Term
|
Definition
Aneuploidy
Extra Chromosome X due to non
disjonction.
Karyotype 47 XXX
(possibility of more than 3 X
Chromosomes) |
|
|
Term
| XXX clinical presentation |
|
Definition
Female phenotype, fertile with no major
congenital anomalies and slight cognitive
impairment. Disabilities increases with
number of X chromosomes. Number of
Barr bodies= nX‐1 |
|
|
Term
| (Turner Syndrome) clinic presentation |
|
Definition
Female with short stature and ovarian
failure leading to primary amenorrhea
and infertility. Coarctation of the aorta
and some renal anomalies. No barr body
in 45X |
|
|
Term
| (Turner Syndrome) mutation |
|
Definition
Aneuploidy
X Chromosome monosomy due
to nondisjunction or loss of a
structurally abnormal X or Y.
Many are mosaicism with
normal 46 XX cell line. |
|
|
Term
| (Turner Syndrome) chromosome |
|
Definition
|
|
Term
|
Definition
Deletion of distal short
arm of chromosome 5
Karyotype
46 XY,del (5p) |
|
|
Term
| Cri du chat clinical presentation |
|
Definition
Mental retardation, microcephaly and
cat cry like |
|
|
Term
|
Definition
|
|
Term
Velo‐cardio‐facial
syndrome
(DiGeorge syndrome) chromosome |
|
Definition
|
|
Term
Velo‐cardio‐facial
syndrome
(DiGeorge syndrome) mutation |
|
Definition
Microdeletion of
chromosome 22
(22q11.2)
Fish detection |
|
|
Term
Velo‐cardio‐facial
syndrome
(DiGeorge syndrome) clinical presentation |
|
Definition
Palate abnormalities (Cleft and
other),facial anomalies and prominent
nose, cardiac malformations such as
Tetralogy of Fallot and coarctation of the
aorta. Hypocalcemia and learning
disabilities are common. |
|
|
Term
| Prader‐Willi syndrome chromosome |
|
Definition
|
|
Term
| Prader‐Willi syndrome mutation and inheritance |
|
Definition
Microdeletion of paternal
chromosome 15 (15q11‐
13). Due to imprinting, genes in
this region are inactive on
maternal chromosome. Could
also result from maternal
uniparental disomy. inheritance: paternal |
|
|
Term
| Prader‐Willi syndrome clinical presentation |
|
Definition
Obesity with or without developmental
delay. Small hands and feets,
hypogonadism and learning disabilities |
|
|
Term
| Angelman syndrome mutation and inheritance |
|
Definition
Microdeletion of maternal
chromosome 15 (15q11‐
13). Due to imprinting, genes in
this region are inactive on
paternal chromosome. Could
also result from paternal |
|
|
Term
| Angelman syndrome chromosome |
|
Definition
|
|
Term
| Angelman syndrome clinical presentation |
|
Definition
Short Stature,severe developmental
delay, seizures, stiff and clumsy gait,
mental retardation and hyperactivity . |
|
|
Term
| Williams Syndrome mutation and inheritance |
|
Definition
Microdeletion of
chromosome 7q11.2
leading to deletion of
elastin gene. Dominant trait |
|
|
Term
| Williams Syndrome clinical presentation |
|
Definition
Characteristic facial features include
perorbital fullness,wide mouth, long
philtrum and small widely spaced teeth.
Congenital heart diseases such as
supravalvular aortic stenosis (SVAS) |
|
|
Term
| Williams Syndrome chromosome |
|
Definition
Chromosome 7/Elastin gene
(ELN) |
|
|
