Microdeletion Syndromes: Characteristics and Diagnosis
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Syndrome |
Phenotypic features |
Cytogenetic location |
FISH probes a |
---|---|---|---|
Prader-Willi Syndrome |
Hypotonia, Hyperphagia, Obesity, Short Stature, Small Hands and Feet, Hypopigmentation, Mental Retardation |
15qll-ql3 |
Commercial (SNRPN) |
Angelman Syndrome |
Hypotonia, Microcephaly, Ataxic Gait, Inappropriate Laughter, Seizures, Hypopigmentation, Mental Retardation |
15qll-ql3 |
Commercial (D15S10) |
Miller-Dieker Syndrome |
Type I Lissencephaly, Dysmorphic Facies |
17pl3.3 |
Commercial (D17S379) |
Velo-Cardio Facial Syndrome (Del-22q) |
Abnormal Facies, Cleft Palate, Thymic Hypoplasia, Hypocalcemia, Heart Defect (Conotruncal Defect) |
22qll |
Commercial (TUPLE 1) |
Langer-Giedion Syndrome |
Trichorhinophalangeal Syndrome (Sparse Hair, Bulbous nose, Cone-shaped Phalangeal epiphyses), Multiple Exostoses, Mental Retardation |
8q24.1 |
Investigator |
AWTA (WAGR) |
Aniridia, Wilms Tumor, Genitourinary Dysplasia, Mental Retardation |
11pl3 |
Investigator |
Smith-Magenis Syndrome |
Dysmorphic Facial Features, Behavioral Abnormalities, Self Destructive Behavior, Peripheral Neuropathy, Mental Retardation |
17p11.2 (FLII, TOP3, SHMT1) |
Commercial |
Smith-Magenis Syndrome |
Dysmorphic Facial Features, Behavioral Abnormalities, Self Destructive Behavior, Peripheral Neuropathy, Mental Retardation |
17p11.2 (FLII, TOP3, SHMT1) |
Commercial |
Williams Syndrome |
Dysmorphic Facial Features, Infantile Hypercalcemia, Congenital Heart Disease, Gregarious Personality, Premature Aging of the Skin, Mental Retardation |
7qll.23 |
Commercial (ELN) |
Rubinstein-Taybi Syndrome b |
Dysmorphic Facial Features, Broad Thumbs and First Toes, Mental Retardation |
16pl3.3 |
Investigator |
Alpha-Thalassemia and Mental Retardation (ATR-16) |
Dysmorphic Facial Features, Alpha-Thalassemia, Mental Retardation |
16pl3.3 |
Investigator |
Alagille Syndrome b |
Dysmorphic Facial Features, Chronic Cholestasis, Vertebral Arch Defects, Pulmonic Stenosis |
20pll.23-pl2.2 |
Investigator |
Greig-Cephalopoly-syndactyly Syndrome b |
Craniosynostosis, Polysyndactyly, Mental Retardation |
7pl3 |
Investigator |
Albrights Hereditary Osteodystrophy-Like Syndrome |
Short stocky build, Abnormal Facies, Brachymetaphalangism, Seizures, Developmental Delay |
2q37 |
Investigator |
1p36 Deletion Syndrome |
Hypotonia, Developmental Delay, Growth Abnormalities, Craniofacial Dysmorphism, Minor Cardiac Malformations |
1p36 |
Investigator |
Xp22.3 Deletion |
X-Linked Ichthyosis, Mental Retardation, Epilepsy, Ocular Albinism, Kallman Syndrome |
Xp22.3 |
Investigator |
Xp21 Deletion |
Muscular Dystrophy, Glycerol Kinase Deficiency, Congenital Adrenal Hypoplasia, Mental Retardation |
Xp21 |
Investigator |
Saethre-Chotzen Syndrome b |
Saethre-Chotzen Syndrome, Learning Difficulties |
7p21.1 |
Investigator |
Y Chromosome Deletion |
Unilateral Cryptorchidism,Idiopathic Infertility |
Yql3 |
Commercial (PCR Primers) |
van der Woude Syndrome |
Cleft Lip With or Without Cleft Palate; Bilateral Lip Pits; Hypodontia |
1q32-lq1 |
Investigator |
Diamond-Blackfan Anemia |
Red Blood Cell Hypoplasia, Macrocephalia, Hypotonia and Psychomotor Retardation |
19ql3.2 |
Investigator |
NF1 Microdeletion Syndrome b |
Neurofibromatosis, Early Age Onset of Cutaneous Neurofibromas, Facial Dysmorphism, Learning Disabilities, Mental Retardation |
17qll.2 |
Investigator |
Distal 22q Microdeletion |
Hypotonia, Severe Language Delay, Mild Facial Dysmorphism |
22ql3-22qter |
Commercial(D22S39, ARSA) |
17pll.2 Duplication |
Charcot-Marie-Tooth (CMT) Disease, Developmental Delay |
17pll.2 |
Commercial (FLII, TOP 3, SHMT1) |
Cat-Eye Syndrome |
Coloboma, Choanal Atresia, Learning Disabilities, Mental Retardation |
22qll.2 |
Investigator |
Dicenteric (15) |
Seizures, Autism, Mental Retardation, Mild Facial Dysmorphism |
15qll-15ql3 |
Commercial (SNRPN) |