Duplication Syndrome1111q11-q13.3

Microdeletion Syndrome1212q14

Deletion Syndrome1414q11-q22

Overgrowth Syndrome1515q26

Microdeletion Syndrome1616p11.2-p12.2 

Microduplication Syndrome1616p11.2-p12.2

Deletion Syndrome1717q21.31

Duplication Syndrome1717q21.31

Microdeletion Syndrome11p36

Microdeletion Syndrome11q41-q42

Glass Syndrome22q33.1

Deletion Syndrome55q21.1-q31.2

Deletion Syndrome88p23.1

Duplication Syndrome88p23.1

Alpha Thalassemia, Mental Retardation Syndrome1616p13.3

Androgen Insensitivity Syndrome(AIS)23Xq12

Angelman Syndrome/Prader-Willi Syndrome1515q11-q13

Aniridia II & WAGR Syndrome1111p13

Bannayan-Riley-Ruvalcaba Syndrome(BRRS)1010q23.31

Branchiootorenal dysplasia Syndrome I(BOR)/Melnick-Frazer Syndrome88q13.3

Cat-eye Syndrome(CES)2222q11.21

Chromosome 10q deletion Syndrome1010q26

Chromosome 10q22.3-q23.31 microdeletion Syndrome1010q22.3-q23.31

Chromosome 18p deletion Syndrome1818p

Chromosome 18q deletion Syndrome1818q

Cornelia de Lange Syndrome I (CDLS)55p13.2

Cowden Syndrome(CD)1010q23.31

Cri du Chat(5p deletion) Syndrome55p15.2 to the entire short arm

Dandy-Walker Syndrome(DWS)3 3q22-q24

Diaphragmatic hernia, congenital (HCD/DIH1)1515q26.1

DiGeorge type 2 Syndrome (DGS2)1010p14-p13 

Distal Arthrogryposis type 2B (DA2B)89p13.3;11p15.5;17p13.1

Duchenne muscular dystrophy (DMD);Duchenne/Becker mascular dystrophy (DMD/BMD)23Xp21.2-p21.1

Dyggve-Melchior-Clausen Syndrome(DMC)1818q21.1

Feingold Syndrome I22p24.3

Holoprosencephaly Type 1(HPE1)2121q22.3

Holoprosencephaly Type 4(HPE4)1818p11.31

Holoprosencephaly Type 6 (HPE6)22q37.1-q37.3

Jacobsen Syndrome1111q24-q25

Langer-Giedion Syndrome(LGS)88q23.3-q24.11

Leukodystrophy with 11q14.2-q14.31111q14.2-q14.3

Mental retardation X-linked growth horm. Def (MRGH)23Xq26-q27

Microphthalmia with linear skin defects23Xp22.2

Microphthalmia Syndrome Type 6, pituitary hypoplasia1414q22.2-q22.3

Monosomy 9p Syndrome99p22.3-p23

Orofaciodigital Syndrome I23Xp22.2

Panhypopituitarism, X-linked23Xq26-q27

Potocki-Lupski Syndrome (17p11.2 duplication Syndrome)1717p11.2

Prader-Willi-like Syndrome66q16.3 

Rieger Syndrome Type 1 (RIEG1)44q25

Saethre-Chotzen Syndrome(SCS)77p21.1

Deafness-infertility Syndrome1515q15.3

Smith-Magenis Syndrome1717p11.2 

Split-Hand/Foot Malformation Type 5  (SHFM5)22q31

Split-hand/foot malformation type 3 (SHFM3)1010q24 

Trichorhinophalangeal Syndrome Type 1(TRPS1)88p23.3

Van der Woude Syndrome I (VWS)11q32.2-q41

Wilms tumor 1 (WT1)1111p13

X-linked lymphoproliferative Syndrome(XLP)23Xq25

Microduplication Syndrome23Xp11.22-p11.23

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