Mosaic trisomy 22 in a 4‐year‐old boy with congenital heart disease and general hypotrophy: A case report

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. 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. 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.

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

“…Mosaic trisomy 22 is rare, with at least 22 cases reported. Various types of CHDs were noted in 76% of a series of 21 patients (Abdelgadir et al, ; Kalyina et al, ). It is difficult to discern the cause of early mortality in patients with complete or mosaic trisomy 22, whether it is cardiac in nature, or some other etiology.…”

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease

“…In this study, karyotype analysis, whole‐exome sequencing (WES) in the case (CHD‐7) that we found structural changes in his chromosomes, and GATA4 variant were checked; briefly, peripheral blood from all the patients was collected in heparin and EDTA tubes, both. Heparinized blood was used for karyotyping, based on the standard protocols as described previously, and EDTA‐treated samples for DNA extraction. The study is performed in accordance with the Helsinki Declaration and has been approved by the Rajaei Cardiovascular, Medical, and Research Center (RHC.AC.IRREC.1395.46; December 24, 2016) and Zanjan University of Medical Sciences (ZUMS.REC.1396.145; June 21, 2017) Ethics Committees.…”

“…In this study, karyotype analysis, whole-exome sequencing (WES) in the case (CHD-7) that we found structural changes in his chromosomes, and GATA4 variant were checked; briefly, peripheral blood from all the patients was collected in heparin and EDTA tubes, both. Heparinized blood was used for karyotyping, based on the standard protocols as described previously 18…”

Cardiovascular-related death in infancy and childhood: a clinicopathological study of two referral institutions in England

“…Histological abnormalities included enlarged myocyte nuclei with expanded cytoplasm. This condition has been reported to have phenotypic associations with mosaic trisomy 22 [ 10 ]. A 19-month male infant born to consanguineous parents with a history of intrauterine growth restriction and a sudden movement deterioration was admitted to the hospital with bradycardia.…”

“…Histological abnormalities included enlarged myocyte nuclei with expanded cytoplasm. This condition has been reported to have phenotypic associations with mosaic trisomy 22 [ 10 ].…”