20q11.2 microdeletion syndrome

A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 23548970
 Loss of transfusion dependency following deferasirox treatment of iron overload in a woman with myelofibrosis and spherocytosis - a case report.
Tesch H, Ihling C.
Onkologie. 2013;36(4):205-8.
Anemia
Benzoates Blood Transfusion Females Homo sapiens Iron Chelating Agents Iron Overload Primary Myelofibrosis Triazoles
1
(4.0%)		 12722343
 [Therapy-related acute myelogenous leukemia (AML-M6) with add(11) (q23) and del(20) (q11.2) developing via myelodysplastic syndrome after chemotherapy for malignant lymphoma].
Kawakami K, Watanabe Y, Kadowaki S.
Rinsho Ketsueki. 2003;44(3):168-73.
Pancytopenia
DDIT3 KMT2A
Acute Erythroblastic Leukemia Antineoplastic Combined Chemotherapy Protocols B-Cell Lymphomas Chromosome Aberrations Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 5 Diffuse Large B-Cell Lymphoma Females Homo sapiens Middle Aged Mitoguazone Neoplasms, Second Primary
1
(4.0%)		 9095662
 [Chronic myelomonocytic leukemia developed 7 years after the onset of idiopathic thrombocytopenic purpura like syndrome].
Sawanobori M, Nakagawa Y, Inoue Y, Suzuki K, Shinohara T, Takemura T.
Rinsho Ketsueki. 1997;38(3):222-7.
Purpura
Blood Cell Count Bone Marrow Cells Differential Diagnosis Females Homo sapiens Leukemia, Myelomonocytic, Chronic Middle Aged Preleukemia Time Factors
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000490 Deeply set eye Obligate (100%)
HP:0001263 Global developmental delay Obligate (100%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000478 Abnormality of the eye Frequent (79-30%)
HP:0000598 Abnormality of the ear Frequent (79-30%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001884 Talipes calcaneovalgus Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002508 Brainstem dysplasia Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0012385 Camptodactyly Frequent (79-30%)
HP:0040019 Finger clinodactyly Frequent (79-30%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001181 Adducted thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID