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Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.
- Source :
-
Journal of clinical laboratory analysis [J Clin Lab Anal] 2019 Feb; Vol. 33 (2), pp. e22663. Date of Electronic Publication: 2018 Sep 26. - Publication Year :
- 2019
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Abstract
- Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4-year-old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree.<br />Method and Results: The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, cryptorchidism, and hypotonic muscle. He is the first reported with hypothyroidism and larynx wall thickness in worldwide and the first with atrial septal defect (ASD) from Iran. Chromosomal analyses using G-banding indicated a de novo Mos 47,XY,+22(6)/46,XY(44) karyotype with no other chromosomal structural changes.<br />Conclusions: Our observations confirm the importance of cytogenetic analyses for determining the cause of congenital anomalies and provide a useful genetic counseling. In addition, due to the fact that some of mosaic trisomy 22 features are unavoidable such as CHD and general hypotrophy, we suggest including echocardiography test for early diagnosis during the clinical assessment.<br /> (© 2018 Wiley Periodicals, Inc.)
- Subjects :
- Abnormal Karyotype
Child, Preschool
Chromosomes, Human, Pair 22 genetics
Humans
Hypothyroidism complications
Male
Mosaicism
Chromosome Disorders complications
Chromosome Disorders diagnosis
Chromosome Disorders genetics
Chromosome Disorders pathology
Heart Septal Defects, Atrial complications
Heart Septal Defects, Atrial diagnosis
Heart Septal Defects, Atrial genetics
Heart Septal Defects, Atrial pathology
Trisomy diagnosis
Trisomy genetics
Trisomy pathology
Uniparental Disomy diagnosis
Uniparental Disomy genetics
Uniparental Disomy pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1098-2825
- Volume :
- 33
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of clinical laboratory analysis
- Publication Type :
- Academic Journal
- Accession number :
- 30259573
- Full Text :
- https://doi.org/10.1002/jcla.22663