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201 Cards in this Set
- Front
- Back
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Down sx
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N/A
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Trisomy 18
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N/A
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Trisomy 13
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N/A
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Klinefelter
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N/A
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Turner
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N/A
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Moles
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N/A
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Triploidy
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N/A
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Cri du Chat
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Del 5p15
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Wolf Hirschorn
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Del 4p16.3
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22q11 (VCFS, DiGeorge, Shprintzen, CTAF)
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Del 22q11
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Williams
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7q11.2 / ELN
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Smith-Magenis
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17p11.2 / RAI1
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Langer-Giedion
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8q24.11-13 / TRPS1, EXT1, (contiguous gene)
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WAGR
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11p13 / WT1, PAX6
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Alagille
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20p12 / JAG1 or monosomy 20p12, Jagged
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Subtel deletions (1p36, 22q13)
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1p36, 22q13
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Miller Dieker
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17p13.3 / LIS1
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Cat eye
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22q11
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Achondroplasia
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4p16 / FGFR3
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Campomelic dysplasia
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17q24 / SOX9
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Chondrodysplasia punctata
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Xp22 – ARSE, 6q22/PEX7
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Diastrophic dysplasia
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5q32-q33.1/ SLC26A2
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Classical EDS
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Classical – COL5A1 & COL5A2, COL1A1, TNX null mutations
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Vascular EDS
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Vascular – COL3A1
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Ocular EDS
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Ocular – PLOD1
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Arthrochalasia EDS
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Arthrochalasia – COL1A1, COL1A2, PNP1
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OI
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17q21.3 / COL1A1; 7q22.1 / COL1A2
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Thanatophoric dysplasia
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4p16.3 / FGFR3
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Marfan
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15q21 / FBN1 / fibrillin 1; TGFBR2
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Alpha Thalassemia
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Alpha globin chromosome 16p
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Beta Thalassemia
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11p15 / Beta Globin
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Hemochromatosis
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6p21 / HFE; Near MHC
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Hemophilia A
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Xq28/F8C;
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Hemophilia B
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Xq27/F9
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Sickle cell
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11p15.5 / HBB / B-globin
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Von Willebrand
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12p13.3 / VWF
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G6PD
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Xq28/G6PD
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Factor V
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F5
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Crouzon
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10q26/FGFR2
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Apert
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10q26/FGFR2
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Pfeiffer
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8q11/FGFR1; 10q26/FGFR2; (vast majority of cases caused by FGFR2 muts)
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Saethre-Chotzen
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7p21 / Twist
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Androgen insensitivity
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Xq11/AR gene (androgen receptor)
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CAH
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6p21/ CYP21A2; 21 hydroxylase; Near MHC
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Kallman
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KAL1/Xp22/ Anosmin1
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5 alpha reductase
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2p23/SRD5A2; No clinical testing
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Ataxia telangiectasia
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11q22/ATM
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Bloom
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15q26/ BLM (aka RECQL3)
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Hereditary Breast and Ovarian Cancer syndrome
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17q21/BRCA1; 13q12/BRCA2; BRCA2 is one Fanconi anemia gene
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CML – Philadelphia chromosome
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t(9;22)(q34;q11)
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FAP
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5q21/APC
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Fanconi anemia
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16q24.3 / FANCA; 9q22.3 / FANCC; 13q12.3 / FANCD1 (BRCA2); 3p25.3 / FANCD; 26p22 / FANCE; 11p15 / FANCF; 9p13 / FANCG; 2p16.1 / FANCL
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Nevoid basal cell carcinoma syndrome (Gorlin)
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9q22.3 / PTCH
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HNPCC
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2p22 / MSH2; 3p21 / MLH1; 2q31 / PMS1; 7p22 / PMS2; 2p16 / MSH6
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Li Fraumeni
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17p13/ TP53 / p53
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MEN1
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11q13/MEN1/menin
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MEN2
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10q11/RET
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MYH-associated polyposis
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1p / MYH
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NF1
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17q11.2 / NF1 / neurofibromin
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NF2
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22q12.2 / NF2 / merlin
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RB
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13q14/RB1
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Tuberous sclerosis
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9q34 / TSC1 / hamartin; 16p13.3 / TSC2 / tuberin
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VHL
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3p25 / VHL / elongin
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XP
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9q34.1 / XPA; 2q21 / XPB; 3p25.1 / XPC; 19q13.2 / XPD; 11p12 / XPE; 16p13.2 / XPF; 13q32 / XPG
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Cowden (& other PTEN)
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10q23.31 / PTEN
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Leigh disease
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Mitochondrial
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MELAS
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Mitochondrial / MT-TL1
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MERRF
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Mitochondrial / MT-TK
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MNGIE
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22q13.3 / ECGF1
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Pyruvate Dehydrogenase complex
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E1 alpha complex
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Kearns-Sayre
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Mitochondrial / KSS
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NARP
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Mitochondrial / MT-ATP6
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Leber Hereditary Optic Neuropathy (LHON)
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Mitochondrial / MT-CYB, MT-ND1, MT-ND4, MT-ND5, MT-ND6
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Mitochondrial hearing loss
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12S rRNA gene
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Fragile X
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Xq27/FMR1
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Huntington
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4p16/IT15/ Huntingtin
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Myotonic dystrophy
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19q13/DMPK
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Friedreich ataxia
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9q13/FRDA/frataxin
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Kennedys
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Xq11/ androgen receptor
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CPS I deficiency
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2q35/ Carbamyl phosphate synthetase
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OTC deficiency
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Xp21.1
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Citrullinemia
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9q34/ Arginosuccinic synthase (ASS)
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Arginosuccinic aciduria
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7q/ Arginosuccinate synthase (ASL)
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Arginase deficiency
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6q23/ARG1/ Arginase
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MCAD
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1p31 / ACADM / medium chain acyl CoA dehydrogenase
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CPTII deficiency carnitine palmitoyl-transferase deficiency
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1p32/CPTII
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Propionic acidemia
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13q32 / PCCA; 3q21 / PCCB
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Methylmalonic acidemia
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6p21 / MUT / methylmalonyl coA mutase; 4q31.1 / MMAA; 12q24 / MMAB
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Isovaleric acidemia
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15q14 / IVD / isovaleryl CoA dehydrogenas
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GA1
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19p13/GAI/glutaryl-CoA dehydrogenase
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GAII
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Multiple
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GSD1a & 1b
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1a - 17q21 glucose 6 phosphatase; 1b - 11q23 glucose 6 phosphatase traslocase
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Pompe (GSD II)
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17q25.2 / GAA
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MPS1 (Hurler, Hurler-Scheie, Scheie)
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4p16.3 / IDUA / alpha-L-iduronidase
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MPSII (Hunter)
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Xq28 / IDS / iduronate-2-sulfatase
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MPS III (Sanfilippo)
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17q25 / HSS; 17q21 / NAGLU; 14 / ?; 12q14 / GNS
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Tay-Sachs
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15q23 / HEXA
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Gaucher
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1q21/GBA gene/Gluco-cerebrocidase
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Fabry
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Xq22/GLA/ alpha galactosidase
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Niemann Pick
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11p15.4 / SMPD1 (Types A & B); 18q11 / NPC1 (Type C); 14q24.3 / NPC2 (Type C)
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Canavan
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17pter/ASPA/ aspartoacylase
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Krabbe
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14q31 / GALC / galactocerebro-cidase
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Metachromatic leukodystrophy
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22q13.31 / ARSA
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Wilson
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13q14.3-q21.1/ ATP7B
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Menkes
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Xq12-q13/ ATP7A
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MSUD
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19q13.1 / BCKDHA; 6p21 / BCKDHB; 1p31 / DBT
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PKU
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12q24.1 / PAH
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Tyrosinemia 1
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15q23
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Tyrosinemia 2
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Cytosolic tyrosine amino-transferase
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Alkaptonuria
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3q/HGD; homogentisic acid dioxygenase
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Homocystinuria
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21q22/ CBS/ cystathionine beta synthase
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Cystinuria
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2p16
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Cystinosis
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17p13/ CTNS cystinosin gene
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Nonketotic hyperglycinemia
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9p22 / GLDC (80% of cases) 3p21.2 / AMT
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X-linked Adrenoleuko-dystrophy
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Xq28/ABCD1 gene
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Rhizomelic chondrodysplasia punctata
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6q22/PEX7
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Zellweger (spectrum with neonatal adrenal leukodystrophy & infantile Refsum’s)
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PEX1, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX26, PEX3, PXF, PXMP3, PXR1
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Galactosemia
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9p13/ galactose-1-phosphate uridyltransferase
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Hereditary fructose intolerance
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9q22/ Aldolase B gene Fructose-1-Phosphate aldolase
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Biotinidase deficiency
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BTD gene/3p25
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Porphyria
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11q23.3
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CDG (congenital disorders of glycosylation) formerly carbohydrate deficient glycoprotein syndromes
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CDG1A I son 16p13
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Lesch-Nyhan
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Xq26 / HPRT1 / hypoxanthine: guanine phosphor-ribosyltransferase
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Smith Lemli Opitz
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11q/DHCR7
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Alpha-1-antitrypsin
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14q32/PI/ protease inhibitor
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Hyper-cholesterolemia
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LDLR
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Mucolipidosis II
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4q21
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Mucolipidosis IV
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19p13.3 / MCOLN1
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Connexin/ nonsyndromic hearing loss
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GJB2-connexin 26; GJB6 – connexin 30; multiple others
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Waardenburg
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2q35/PAX3; 3p14/MITF – accounts for about 10-20%
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Alport
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Xq22/COL4A5; 2q36/COL4A3 & 2q36/COL4A4
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Treacher-Collins
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5q32 / TCOF1 / treacle
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BOR
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8p13 / EYA1
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Pendred
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7q31/ SLC26A4/ Pendrin
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Stickler
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1p21/ COL11A1; 6p21/ COL11A2; 12q13/ COL2A1
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Usher
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USH1A-1G; 1q41/ USH2A/ Usherin USH2B,C & D protein not identified yet; 3q21/ USH3
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Jervell-Lange-Nielsen
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11p15/KCNQ1; 22q22/KCNE1
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VATER (etc.)
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N/A
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Angelman
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15q11-q13 / UBE3A
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Prader Willi
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15q11-q12
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Beckwith Wiedemann
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11p15
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Russell Silver
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Chromo 7
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Alcohol
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N/A
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Cigarettes
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N/A
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Cocaine
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N/A
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Warfarin embryopathy
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N/A
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Marijuana
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N/A
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Diabetes
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N/A
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Accutane
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N/A
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Epilepsy
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N/A
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Thalidomide
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N/A
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Psychotherapeutic medications
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N/A
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Tegretol
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N/A
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Phenylhydantoin
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N/A
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Valproic acid (Depakote)
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N/A
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CMV
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N/A
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Rubella
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N/A
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Varicella zoster
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N/A
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Toxoplasmosis
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N/A
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Parvovirus B19 (Fifth disease)
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N/A
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Methylmercury
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N/A
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Radiation
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N/A
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Cleft lip & palate
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TGFA, TGFB, MSX1
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Aarskog/ Faciogenital dysplasia
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Xp11/FGD1
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Albright hereditary osteodystrophy (Pseudohypo-parathyroidism
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20q13.2 / GNAS1
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Bardet-Biedl
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BBS1; BBS2; BBS4; MKKS; BBS7; ?BBS3; ?BBS5
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CHARGE
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8q12/CHD7
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CMT
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"CMT1 (50%); CMT1A -; PMP22; CMT1B – MPZ; CMT1C – LITAF; CMT1D – EBR2; CMT1E – PMP22; CMT1F - NEFL; CMT2 (20-40%); CMT2A – KIF1B & MRN2; CMT2B – RAB7; CMT2B1 – LMNA & a lot more; CMT4 (rare); GDAP1, MTMR2, SH3TC2, NDRG, EGR2, PRX; CMTX (10-20%); GJB1-connexin 32
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Cornelia de Lange
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NIPBL/5p13
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Costello
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?
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CF
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7q31/ CFTR
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DMD/Becker
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DMD/Xp21/ dystrophin; 79 exons, largest identified gene 1.5% of X chromosome, 2300 kb, 427 kD protein
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Dubowitz
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?
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Ectodermal dysplasia
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ED1 (ectodysplasin) Xq12; EDAR, EDARADD 2q13; EDAR, EDARADD 1q42
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Emery-Dreifuss
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EMD (XL) - emerin; LMNA (AD/AR) - Lamins A & C
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Familial dysautonomia
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IKBKAP
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Hemifacial microsomia/ Goldenhar/ OAV
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Unknown
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HHT
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9q34/ ENG/ endoglin; 12q11/ ACVRL1 (alk1); Serine/threonine-protein kinase receptor R3
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Holt-Oram
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12q24/TBX5
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IP
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IKBKG/NEMO gene; Xq28
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Kabuki
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?
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Malignant hyperthermia
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19q13.1 / RYR1; 1q32 / CACNA1S
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McCune Albright
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20q13/GNAS
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Meckel Gruber
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17q22 / MKS1
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Multiple exostoses
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8q24.11 / EXT1; 11p12 / EXT2
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Nail patella
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9q34.1 / LMXB1
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Noonan
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12q24.1 / PTPN11
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Ocular albinism
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Xp22.3 / OA1
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Pallister-Hall
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7p13 / GLI3
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Autosomal recessive polycystic kidney disease
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6p21.1 / PKHD1
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Autosomal dominant polycystic kidney disease
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16p13.3 / PKD1; 4q21 / PKD2
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Progeria (Hutchinson-Gilford syndrome)
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1q21.2 / LMNA
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Rett
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Xq28 / MECP2
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Rubinstein-Taybi
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16p13.3 / CREBBP
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SCID, X-linked
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Xq13.1 / IL2RG
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Sotos
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5q35 / NSD1
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Spinal muscular atrophy (SMA)
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5q12.2 / SMN1
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STS deficiency (X-linked ichthyosis)
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Xp22.32 / STS
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Van der Woude
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1q32 / IRF6
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Walker-Warburg
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9q34.1 / POMT1
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Wiskott-Aldrich
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Xp11.23 / WAS / WASP
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