15q21
FBN1 mutation
Fibrillin defect
Tall, thin with long extremities; dislocation of lens; aortic dissection; arachnodactyly
Type V collagen defect
COL5A1/COL5A2 mutation
Hyperextensible, fragile and stretchable skin with hypermobile joints; easy bruising
autosomal recessive; lysyl hydroxylase gene mutation; retinal detachment
17q11.2
NF1
Lisch nodules; Cafe au lait spots; multiple neural tumors; pheochromocytoma
22q12
NF2
cafe au lait spots; lisch nodules absent; tynitis; CN VIII bilaterally affected; tumors at the cerebello-pontine angle and multiple meningiomas
3p25.3
VHL
Cerebellar & retinal hemangioblastomas; renal cell carcinoma bilaterally; pheochromocytoma; renal, hepatic & pancreatic cysts
LDL receptor gene
Chromosome 19
LDL transport defect; increase LDL synthesis, xanthomas, premature artherosclerosis; treated with statin drugs; patient presents with normal weight
Hexosaminidase A (Chrom 19)
Accumulation of GM2 gangliosides; Ashkenazic Jews; balooning of neurons with whorled lysosomes on EM; cherry-red spot; death by 3 years of age; motor and mental retardation
11p15.4
Sphingomyelinase accumulation in RES, CNS and eye; death by second year of life; cherry-red spot; ballooning of neurons; protuberant abdomen
Glucocerebrosidase deficiency
Adult onset; acute inflammatory cytokine secretion; glucocerebroside accumulation in mononuclear RES phagocytes; PAS+macrophages with wrinkled tissue paper cytoplasm
autosomal recessive; alpha-1-iduronidase deficiency; corneal clouding; hepatosplenomegaly by 2 years of age; growth retardation; death by 6 to 10 years of age
X-linked recessive; no corneal clouding; life expectancy into the 20s; mucopolysaccharide accumulation
Whipple's Triad; hepatosplenomegaly; glucose-6-phosphate deficiency
Muscle weakness and cramps post-exercise; muscle glycogen phosphorylase deficiency
Cardiomegaly with myocardial cytoplasmic vacuolization consisting of glycogen; can lead to restrictive cardiomyopathy; alpha-glucosidase deficiency
Trisomy 21
Flat facial profile; epicanthic fissures; simian crease; severe mental retardation; IQ below 50; ostium primum ASD; duodenal atresia; alzheimers predisposition
Trisomy 18
Congenital heart defects; mental retardation; death within one year; rocker bottom feet; micrognathia; prominant occiput
Trisomy 13
Rocker bottom feet; mental retardation; death within 6 months; congenital heart defects; cleft lip and palate; micropthalmia; microcephaly
47, XXY
Tall, thin eunuchoid body; small atrophic testes; gynecomastia; reduced IQ; increased FSH and estradiol; Barr body present; Lydig cell hyperplasia
45, X
primary amenorrhea, short stature; neck webbing; widely spaced nipples; streak ovaries; preductal aortic coarctation; normal IQ; cystic hydromas; no Barr body
gonadal sex and phenotypic sex are NOT the same
presence of both ovarian and testicular tissue
Testicular feminization
FMR1 gene
Long face with large mandible; large everted ears; macro-orchidism
Paternal {del(15)(q11;q13)} associated with mental retardation, obesity and hypogonadism
UBE3A
15q12
Mental retardation; seizures; ataxia; inappropriate laughter
sdclay0606
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