Confirmation of mosaic trisomy 22 in an infant with failure to thrive

Dayasiri, Kavinda; Silva, Deepthi de; Weerasekara, Kumudu

doi:10.4038/sljch.v47i2.8488

Cited by 2 publications

(8 citation statements)

References 13 publications

(13 reference statements)

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“…A true midline facial cleft was reported in one prenatal case only, by Chen and colleagues [ 22 ]. General palate clefting was reported in four cases overall [ 1 , 38 , 39 , 40 ], in one instance affecting only the soft palate [ 40 ].…”

Section: Resultsmentioning

confidence: 99%

“…Other cardiovascular anomalies detected at the prenatal ultrasound were an isolated perimembranous ventricular septal defect (VSD) [ 9 ] and aberrant right subclavian artery (ARSA), described prenatally in two cases, but never as an isolated finding [ 3 , 23 ]. Tetralogy of Fallot (TOF) has been reported in one case prenatally and two cases postnatally: Once, in a female fetus who unfortunately underwent perinatal death at 24 gestational weeks [ 23 ], and postnatally in one boy and one girl as part of a complex heart defect which will be further detailed later [ 7 , 40 ]. Prenatal detection of hypoplasia of the right ventricle with tricuspid atresia has also been described [ 37 ], while some cases, on the contrary, describe a right ventricular preponderance [ 23 ].…”

Section: Resultsmentioning

confidence: 99%

“…Nevertheless, the finding in this last case coexisted with the presence of IUGR with vascular impairment, and could be therefore not a malformative, but an adaptive finding [ 43 ]. Finally, prenatal ultrasound also detected one patient with VSD and a hypoplastic transverse aortic arch [ 40 ]. Details regarding postnatal cardiovascular features of mT22 are more comprehensive and heterogeneous.…”

Section: Resultsmentioning

confidence: 99%

“…In detail, two patients exhibited ASD and persistence of superior vena cava in the coronary sinus [ 6 , 39 ]. One patient had ASD along with hypoplasia of the pulmonary branches without hemodynamic consequences [ 44 ]; another showed VSD and a hypoplastic transverse aortic arch [ 40 ]. It is noteworthy to mention that malformations affecting the cardiovascular system extend beyond the heart structure to include great vessels.…”

Section: Resultsmentioning

confidence: 99%

“…In up to 60% of cases, the growth pattern has been reported as delayed, with 32% of patients showing failure to thrive. Among these, one subject required nasogastric tube feeding [ 44 ] and another gastrostomy due to a severe gastro-esophageal reflux [ 40 , 49 ]. We recommend using this information judiciously, since growth outcomes of these patients have not been reported.…”

Section: Resultsmentioning

confidence: 99%

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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trevisan,

Meroni,

Leoni

et al. 2024

Genes

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Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trevisan,

Meroni,

Leoni

et al. 2024

Genes

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Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis

Nardelli,

Laskoski,

Luiz

et al. 2023

BMC Med Genomics

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Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tissues affected. Herein, we described a male patient with the occurrence of mosaic trisomy 22 associated with the inversion of chromosome 9, with karyotype 47, XY, inv (9) (p11q13), + 22 [5] / 46, XY, inv(9) (p11q13) [45] and arr 22q11.1 ~ q13.33(16,417008-51,219,009)x2 ~ 3. It is not possible to infer, in general, the clinical characteristics associated with mosaic trisomy 22. However, the patient presented common clinical features observed in reported cases (in parentheses the percentage observed comparing all reported cases): facial dysmorphia (100%), delay in motor development/growth (82%), cardiac abnormalities (73%), ear abnormalities (55%) and facial and/or body asymmetry (55%), in addition to hypotonia, skin spots, hypoplastic nails. Given the survival and quality of life associated with multidisciplinary treatment, it can be concluded that the patient has a good prognosis. Conclusively, we’re presenting the occurrence of mosaic trisomy 22 and chromosome 9 inversion in the patient with favorable prognosis. Thus, this study proposed a guide which should be inserted in databases of rare genetic conditions to help genetic counselors define mosaic trisomy 22 diagnosis.

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Confirmation of mosaic trisomy 22 in an infant with failure to thrive

Cited by 2 publications

References 13 publications

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis

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