Trisomy 1q

Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.



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Narrow down the case reports



Total: 60 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 7507296
 Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Kennerknecht I, Barbi G, Rodens K.
Am J Med Genet. 1993;47(8):1157-60.
Triangular face Micrognathia Telecanthus
Chromosomes, Human, Pair 1 Developmental Disabilities Face Homo sapiens Infant Male Mouth Abnormalities Multigene Family Syndrome Trisomy
2
(63.4%)		 16082769
 Maternal origin of extra marker chromosome 1Q31.1-qter and 13pter-q12.12 in a child with dysmorhic features.
Rao VB, Kerketta L, Korgaonkar S, Ghosh K, Mohanty D.
Genet Couns. 2005;16(2):139-43.
Micrognathia Overlapping fingers
Adult Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 13 Craniofacial Abnormalities DNA Mutational Analysis Females Fluorescent in Situ Hybridization Genetic Markers Genetic Predisposition to Disease Genotype Homo sapiens Infant, Newborn Trisomy
3
(60.4%)		 11857566
 De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.
Aboura A, Coulomb-L'Hermine A, Audibert F, Capron F, Frydman R, Tachdjian G.
Am J Med Genet. 2002;108(2):153-9.
Pierre-Robin sequence Micrognathia
Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 1 Congenital Hand Deformities Fatal Outcome Fetal Death Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Pierre Robin Syndrome
4
(59.0%)		 23431743
 Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Chen CP, Lin SP, Su YN, Chern SR, Su JW, Lee CC, Wang W.
Genet Couns. 2012;23(4):447-55.
Triangular face Micrognathia
SHH SIX3 TGIF1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 6 Craniosynostosis Developmental Disabilities Facies Females Gene Deletion Gene Duplication Genetic Predisposition to Disease Homo sapiens Incisor Intellectual Disability Micrognathism Oligonucleotide Array Sequence Analysis Seizures Trisomy X-Ray Computed Tomography
4
(59.0%)		 12424755
 Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement.
Kimya Y, Yakut T, Egeli U, Ozerkan K.
Prenat Diagn. 2002;22(11):957-61.
Micrognathia Prominent forehead
Adult Chromosomes, Human, Pair 1 Females Fluorescent in Situ Hybridization Gene Rearrangement Gestational Age Homo sapiens Pregnancy Trisomy
4
(59.0%)		 3233776
 Trisomy (1q)(q42----qter): confirmation of a syndrome.
Chia NL, Bousfield LR, Poon CC, Trudinger BJ.
Clin Genet. 1988;34(4):224-9.
Micrognathia Prominent forehead
Adult Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 22 Females Homo sapiens Infant, Newborn Male Trisomy
7
(57.8%)		 19610079
 Mosaic trisomy 1q: The longest surviving case.
Patel C, Hardy G, Cox P, Bowdin S, McKeown C, Russell AB.
Am J Med Genet A. 2009;149A(8):1795-800.
Micrognathia
Brain Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 22 Fatal Outcome Homo sapiens Infant Infant, Newborn Male Metaphase Mosaicism Survival Analysis Syndactyly Trisomy
7
(57.8%)		 535894
 Omphalocele and partial trisomy 1q syndrome.
Chen H, Gershanik JJ, Mailhes JB, Sanusi ID.
Hum Genet. 1979;53(1):1-4.
Micrognathia
Abortion, Habitual Adult Chromosomes, Human, 1-3 Chromosomes, Human, 21-22 and Y Females Homo sapiens Infant, Newborn Male Pregnancy Syndrome Trisomy
9
(57.0%)		 16970038
 A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.
Karaoguz MY, Biri A, Pala E, Kan D, Poyraz A, Kurdoglu M, Percin EF.
Genet Couns. 2006;17(2):197-204.
Cranial asymmetry Retrognathia Long fingers
Adult Aneuploidy Autopsy Cerebral Ventricles Chromosomes, Human, Pair 1 Cytogenetics Echoencephalography Fatal Outcome Females Fetal Diseases Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Magnetic Resonance Imaging Mosaicism Phenotype Trisomy
10
(50.7%)		 9881182
 Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns JP.
Ann Genet. 1998;41(4):199-204.
Facial asymmetry Synophrys Syndactyly
Adult Chromosome Banding Chromosomes, Human, Pair 1 Homo sapiens Intellectual Disability Male Syndactyly Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0000003 Multicystic kidney dysplasia Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000308 Microretrognathia Frequent (79-30%)
HP:0000476 Cystic hygroma Frequent (79-30%)
HP:0000528 Anophthalmia Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0001833 Long foot Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0010880 Increased nuchal translucency Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000046 Scrotal hypoplasia Occasional (29-5%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000356 Abnormality of the outer ear Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia Occasional (29-5%)
HP:0001539 Omphalocele Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0001789 Hydrops fetalis Occasional (29-5%)
HP:0001800 Hypoplastic toenails Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0006610 Wide intermamillary distance Occasional (29-5%)
HP:0008386 Aplasia/Hypoplasia of the nails Occasional (29-5%)
HP:0008676 Congenital megaureter Occasional (29-5%)
HP:0010306 Short thorax Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 13

HPO ID Term # of case reports
HP:0001909 Leukemia 4
HP:0000316 Hypertelorism 1
HP:0000347 Micrognathia 1
HP:0000369 Low-set ears 1
HP:0000824 Growth hormone deficiency 1
HP:0000879 Short sternum 1
HP:0001371 Flexion contracture 1
HP:0002119 Ventriculomegaly 1
HP:0002664 Neoplasm 1
HP:0010557 Overlapping fingers 1
HP:0011974 Myelofibrosis 1
HP:0025318 Ovarian carcinoma 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID