1 (60.5%) |
22447382
|
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.
Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D.
Pediatr Cardiol. 2013;34(2):452-4.
|
Glossoptosis
Micrognathia
|
|
|
Differential Diagnosis
Echocardiography, Doppler, Color
Females
Follow-Up Studies
Heart Ventricle
Homo sapiens
Infant, Newborn
Isolated Noncompaction of the Ventricular Myocardi...
Pierre Robin Syndrome
|
2 (57.8%) |
8182721
|
Hydrocephalus in an infant with trisomy 22.
Fahmi F, Schmerler S, Hutcheon RG.
J Med Genet. 1994;31(2):141-4.
|
Macrocephaly
Micrognathia
|
|
|
Adult
Chromosomes, Human, Pair 22
Females
Homo sapiens
Hydrocephalus
Infant, Newborn
Pregnancy
Syndrome
Trisomy
|
3 (52.0%) |
23529842
|
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Abdelgadir D, Nowaczyk MJ, Li C.
Am J Med Genet A. 2013;161A(5):1126-31.
|
Preauricular pit
Finger clinodactyly
|
|
|
Amniocentesis
Child
Child, Preschool
Chromosomes, Human, Pair 22
Cytogenetic Analysis
Differential Diagnosis
Females
Homo sapiens
Mosaicism
Trisomy
Uniparental Disomy
|
4 (50.2%) |
7334510
|
Unilateral radial aplasia and trisomy 22 mosaicism.
Dulitzky F, Shabtal F, Zlotogora J, Halbrecht I, Elian E.
J Med Genet. 1981;18(6):473-6.
|
Unilateral radial aplasia
|
|
|
Bone Diseases, Developmental
Chromosome Banding
Chromosomes, Human, 21-22 and Y
Females
Follow-Up Studies
Homo sapiens
Infant, Newborn
Intellectual Disability
Phenotype
Trisomy
|
5 (49.0%) |
3953673
|
Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.
Wertelecki W, Breg WR, Graham JM Jr, Iinuma K, Puck SM, Sergovich FR.
Am J Med Genet. 1986;23(3):739-49.
|
Webbed neck
Cubitus valgus
|
|
|
Adult
Child
Chromosomes, Human, 21-22 and Y
Females
Fibroblasts
Homo sapiens
Lymphocyte
Mosaicism
Nondisjunction, Genetic
Noonan Syndrome
Trisomy
|
6 (47.6%) |
7239510
|
Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.
Schinzel A.
Hum Genet. 1981;56(3):269-73.
|
Preauricular pit
Cutaneous syndactyly
|
|
|
Chromosomes, Human, 21-22 and Y
Congenital Heart Defects
Females
Growth Disorders
High-Risk Pregnancy
Homo sapiens
Infant, Newborn
Maternal Age
Paternal Age
Phenotype
Trisomy
|
7 (45.7%) |
9286446
|
Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.
Crowe CA, Schwartz S, Black CJ, Jaswaney V.
Am J Med Genet. 1997;71(4):406-13.
|
Failure to thrive
Hemiatrophy
|
|
|
Adult
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 22
Differential Diagnosis
Females
Fibroblasts
Fluorescent in Situ Hybridization
Genetic Markers
Homo sapiens
Lymphocyte
Male
Mosaicism
Trisomy
|
8 (42.2%) |
15255116
|
Ocular manifestations of mosaic trisomy 22: a case report and review of the literature.
Thomas S, Parker M, Tan J, Duckett D, Woodruff G.
Ophthalmic Genet. 2004;25(1):53-6.
|
Craniofacial asymmetry
|
|
|
Blepharoptosis
Child, Preschool
Choroid
Chromosomes, Human, Pair 22
Eye Abnormalities
Homo sapiens
Male
Mosaicism
Myopia
Ophthalmoplegia
Trisomy
|
9 (40.2%) |
30259573
|
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.
Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, Razavi Z, Mahdieh N.
J Clin Lab Anal. 2019;33(2):e22663.
|
Microcephaly
Facial asymmetry
|
|
|
Abnormal Karyotype
Atrial Septal Defects
Child, Preschool
Chromosomes, Human, Pair 22
Homo sapiens
Hypothyroidism
Male
Mosaicism
Trisomy
Uniparental Disomy
|
9 (40.2%) |
3046809
|
Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review.
Lessick ML, Szego K, Wong PW.
Clin Pediatr (Phila). 1988;27(9):451-4.
|
Microcephaly
Preauricular pit
|
|
|
Chromosome Aberrations
Chromosomes, Human, Pair 22
Females
Fibroblasts
Homo sapiens
Infant
Lymphocyte
Mosaicism
Trisomy
|