Mosaic trisomy 9

Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.



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Narrow down the case reports



Total: 32 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.6%)		 22249800
 New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival.
Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA.
Sao Paulo Med J. 2011;129(6):428-32.
Micrognathia Preauricular pit Small hand
S100A10 TPPP
Child Child, Preschool Chromosomes, Human, Pair 9 Females Homo sapiens Male Mosaicism Phenotype Survivors Trisomy
2
(63.5%)		 18358140
 [Mosaic trisomy 9: report of a new case with a long-term survival].
Sanchez Zahonero J, Andres Celma M, Lopez Garcia MJ.
An Pediatr (Barc). 2008;68(3):273-6.
Micrognathia Short palpebral fissure
Chromosomes, Human, Pair 9 Females Homo sapiens Infant, Newborn Mosaicism Phenotype Psychomotor Disorders Trisomy
2
(63.5%)		 12210326
 Mosaic trisomy 9 and lobar holoprosencephaly.
Gerard-Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, Janaud JC, Odent S, Encha-Razavi F.
Am J Med Genet. 2002;111(3):295-300.
Micrognathia Flat face Short palpebral fissure
Brain Chromosomes, Human, Pair 9 Females Hedgehog Proteins Holoprosencephaly Homo sapiens Infant, Newborn Male Membrane Proteins Mosaicism Patched Receptors Receptors, Cell Surface Trans-Activators Trisomy
2
(63.5%)		 8010707
 Trisomy 9 mosaicism syndrome. A case report and review of the literature.
Tarani L, Colloridi F, Raguso G, Rizzuti A, Bruni L, Tozzi MC, Palermo D, Panero A, Vignetti P.
Ann Genet. 1994;37(1):14-20.
Micrognathia Bulbous nose Short palpebral fissure
Chromosomes, Human, Pair 9 Homo sapiens Male Mosaicism Syndrome Trisomy
5
(63.4%)		 17935231
 Trisomy 9 mosaicism and XX sex reversal.
Solomon BD, Turner CE, Klugman D, Sparks SE.
Am J Med Genet A. 2007;143A(22):2688-91.
Micrognathia Overlapping fingers
Adult Chromosomes, Human, Pair 9 Cytogenetic Analysis Disorders of Sex Development Females Homo sapiens Infant, Newborn Male Mosaicism Pregnancy Trisomy
6
(59.1%)		 16805360
 Dental management of a child with trisomy 9 mosaicism: a case report.
Moskovitz M, Brener D, Annick RR.
Pediatr Dent. 2006;28(3):265-8.
Progressive microcephaly Short philtrum Genu valgum
Airway Obstruction Chromosomes, Human, Pair 9 Dental Care for Disabled Dental Enamel Females Homo sapiens Intellectual Disability Mosaicism Prognathism Tooth, Supernumerary Trisomy
7
(59.0%)		 27217611
(4876305)
 Report of a Case with Trisomy 9 Mosaicism.
Miryounesi M, Dianatpour M, Shadmani Z, Ghafouri-Fard S.
Iran J Med Sci. 2016;41(3):249-52.
Micrognathia Bulbous nose
7
(59.0%)		 7778585
 Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature.
Wooldridge J, Zunich J.
Am J Med Genet. 1995;56(3):258-64.
Micrognathia Prominent nasal bridge
Child Chromosomes, Human, Pair 9 Crohn Disease Homo sapiens Male Mosaicism Trisomy
9
(57.8%)		 7432742
 Clinical delineation of trisomy 9 syndrome.
Katayama KP, Wilkinson EJ, Herrmann J, Glaspey JC, Agarwal AB, Roesler MR, Mattingly RF.
Obstet Gynecol. 1980;56(5):665-8.
Microcephaly Micrognathia
Chromosomes, Human, 6-12 and X Face Homo sapiens Infant, Newborn Male Mosaicism Phenotype Trisomy
9
(57.8%)		 912938
 Trisomy 9 syndrome.
Qazi QH, Masakawa A, Madahar C, Ehrlich R.
Clin Genet. 1977;12(4):221-6.
Microcephaly Micrognathia
Bone and Bones Child Chromosomes, Human, 6-12 and X Congenital Heart Defects Dermatoglyphics Face Females Homo sapiens Infant Infant, Newborn Intellectual Disability Male Mosaicism Syndrome Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 62

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000414 Bulbous nose Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0001838 Rocker bottom foot Frequent (79-30%)
HP:0002006 Facial cleft Frequent (79-30%)
HP:0002827 Hip dislocation Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0012815 Hypoplastic female external genitalia Frequent (79-30%)
HP:0040019 Finger clinodactyly Frequent (79-30%)
HP:0000085 Horseshoe kidney Occasional (29-5%)
HP:0000110 Renal dysplasia Occasional (29-5%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000130 Abnormality of the uterus Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000269 Prominent occiput Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000476 Cystic hygroma Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0001195 Single umbilical artery Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001651 Dextrocardia Occasional (29-5%)
HP:0001654 Abnormal heart valve morphology Occasional (29-5%)
HP:0001706 Endocardial fibroelastosis Occasional (29-5%)
HP:0001746 Asplenia Occasional (29-5%)
HP:0001789 Hydrops fetalis Occasional (29-5%)
HP:0001792 Small nail Occasional (29-5%)
HP:0001869 Deep plantar creases Occasional (29-5%)
HP:0002101 Abnormal lung lobation Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002414 Spina bifida Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002652 Skeletal dysplasia Occasional (29-5%)
HP:0002937 Hemivertebrae Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0003042 Elbow dislocation Occasional (29-5%)
HP:0004422 Biparietal narrowing Occasional (29-5%)
HP:0005562 Multiple renal cysts Occasional (29-5%)
HP:0005815 Supernumerary ribs Occasional (29-5%)
HP:0006191 Deep palmar crease Occasional (29-5%)
HP:0007957 Corneal opacity Occasional (29-5%)
HP:0011027 Abnormality of the fallopian tube Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)
HP:0100752 Abnormal liver lobulation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0001511 Intrauterine growth retardation 2
HP:0000238 Hydrocephalus 1
HP:0000490 Deeply set eye 1
HP:0000506 Telecanthus 1
HP:0000822 Hypertension 1
HP:0002144 Tethered cord 1
HP:0002650 Scoliosis 1
HP:0005268 Spontaneous abortion 1
HP:0012032 Lipoma 1
HP:0012245 Sex reversal 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID