SHORT syndrome

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WHAT WE HAVE LEARNED ABOUT IMPRINTING? Deletion UPD (milder) Point mutation Duplications Imprinting control center change Methylation changes (LOI) Tissue specific expression
7 UPD mat p11.1-p14 p11.1 p14 Mat UPD (?1GFBP1↑) (?1GFBP1 Pericentric inversion Point mutation q32 Mat dup and UPD 15q26.1-qter 15q26.1 qter 17q23.3-q25 17q23.3 q25 RS/SR 11p15 Mat dysfunction Mat UPD Loss of paternal methylation DMR Imprinted genes normal expression FOX2 pat FOX2 pat GRB10 pat GRB10 pat (C7oef10-11) (C7oef10 11) PEG/MIST mat PEG/MIST (CoPg2 Copg2AS, and MITI, IMP3?) H19 mat H19 H19 IGFIR ? CHS1 ? KPN2 GRB2 and 7 ↓ ↓ -- ↑ ↑ Disruption
Page 1 and 2: SMALL, SMALLER, SMALLEST- SMALLEST
Page 3 and 4: HOW TO APPROACH SHORT STATURE? 1. P
Page 6 and 7: NATURE’S NATURE S RULE OF THUMB O
Page 10: PROPORTIONAL VS. NON-PROPORTIONATE
Page 13 and 14: Significant IUGR Relatively PROPORT
Page 15 and 16: RUSSELL-SILVER/SILVER RUSSELL SILVE
Page 19: Chromosome 7 Mat UPD 7 10% 7p11.2
Page 23 and 24: CHROMOSOME 11P15 - 40% Demethylati
Page 25 and 26: CHROMOSOME 17 17q24.1 17q24.1-q25 q
Page 29 and 30: MULIBREY NANISM Muscle uscle Liver
Page 31 and 32: MULIBREY NANISM- NANISM 3 Autosoma
Page 33 and 34: MULIBREY NANISM- NANISM 5 DIFFERENT
Page 35 and 36: 3 - M Miller iller McKusick cKusick
Page 37 and 38: 3 - M - (3) Miller iller McKusick c
Page 39 and 40: 3 - M - (5) Autosomal recessive, i
Page 41 and 42: 3 - M - (7) REFERENCES Hennekam RC
Page 43 and 44: SHORT SYNDROME - 2 Speech delay (3
Page 45 and 46: SHORT SYNDROME - 4 Hyperextensible
Page 47 and 48: SHORT SYNDROME - 6 DIFFERENTIAL DIA
Page 49 and 50: FLOATING HARBOR SYNDROME Boston Flo
Page 51 and 52: FLOATING HARBOR SYNDROME - 3 Delay
Page 53 and 54: FLOATING HARBOR SYNDROME - 5 DIFFER
Page 55 and 56: BLOOM SYNDROME (Bloom 1954, German
Page 57 and 58: BLOOM SYNDROME - 3 Delayed puberty
Page 59 and 60: BLOOM SYNDROME - 5 Autosomal reces
Page 61 and 62: BLOOM SYNDROME - 7 DIFFERENTIAL DIA
Page 63 and 64: DUBOWITZ SYNDROME - 1 Dubowitz 1965
Page 65 and 66: DOBOWITZ SYNDROME - 3 Small chin 8
Page 67 and 68: DOBOWITZ SYNDROME - 5 DIFFERENTIAL
Page 69 and 70: MAJEWSKI (MICROCEPHALIC) OSTEODYSPL
Page 71 and 72:
MOPD II - 3 Develop intracranial a
Page 73 and 74:
MOPD II - 5 Autosomal recessive wi
Page 75 and 76:
MOPD II - 7 Meier-Gorlin Meier Gor
Page 77 and 78:
SUMMARY 1 ALL PROPORTIONATE, IUGR,
Page 79 and 80:
SUMMARY 3 ALL PROPORTIONATE, IUGR,
Page 81 and 82:
COMMON AND OVERLAPPING FEATURES La
Page 83 and 84:
Gorlin/Smith/Jones Gorlin/Smith/Jon
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SHORT syndrome

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