Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

Leclercq, Sandrine; Baron, Xavier; Jacquemont, Marie‐Line; Cuillier, Fabrice; Cartault, François

doi:10.1002/pd.2427

Cited by 19 publications

(23 citation statements)

References 12 publications

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“…Four of them had normal development. One had a normal phenotype [Leclercq et al, ] while the other three had physical findings consistent with previously described features of mosaic trisomy 22 [Merks et al, ; Thomas et al, ; Florez and Lacassie, ]. The two patients we are reporting also had normal development when assessed at the ages of 5 and 7 years.…”

Section: Discussionsupporting

confidence: 84%

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Abdelgadir

Nowaczyk

2013

American J of Med Genetics Pt A

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Mosaic trisomy 22 is known to be compatible with life. However, there are fewer than 20 reports in the literature of live born children and even fewer reports describing their neurodevelopmental outcome. We report on two girls with mosaic trisomy 22 and normal development at ages 7 and 5 years. Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger clinodactyly. They also had left-sided hemihyperplasia and short stature. In addition, one of them also had ventricular non-compaction and probable asplenia, two unique features not previously reported. In review of the literature, prenatal and postnatal growth failures were the most common complications of mosaic trisomy 22. Skeletal abnormalities including body asymmetry and 5th finger clinodactyly were also common. While the majority of patients with mosaic trisomy 22 had abnormal cognitive development, normal development has also been documented. It is conceivable that children with trisomy 22 mosaicism, with minimal physical findings and normal development are under diagnosed. Our patients further highlight this potential for normal cognitive outcome and draw attention to possible skewing of unfavorable prognosis for the final developmental outcome in this population. Appropriate information regarding developmental outcome is critical for genetic counseling, especially in prenatal situations.

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Section: Discussionsupporting

confidence: 84%

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Abdelgadir

Nowaczyk

2013

American J of Med Genetics Pt A

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“…Le siguen las alteraciones cardiacas presentes en un 86,7%, malformaciones cerebrales, anomalías renales y alteraciones craneofaciales, entre ellas, las auriculares se asocian comúnmente a cromosomopatías por lo que la evaluación de las orejas mediante ecografía o resonancia magnética fetal pueden ser de gran ayuda (15,16). La diferenciación entre trisomía 22 tipo mosaico y tipo no mosaico es importante principalmente con respecto a la esperanza de vida y posibles complicaciones siendo menores en casos tipo mosaico (17).…”

Section: Discussionunclassified

Trisomía 22 en un recién nacido de 39 semanas

Ávila

Fernández

Linares

et al. 2014

nova

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En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales.El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformaciones estructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.

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“…In addition, karyotype analysis based on chorionic villus sampling carries the well-known risk of missing low level mosaicism, such as proven by follow-up amniocentesis in some of the recently reported cases [Wolstenholme et al, 2001;Sifakis et al, 2008]. Differentiation between mosaic and non-mosaic trisomy 22 is important, particularly with respect to counseling issues regarding life-expectancy and possible complications which are usually milder in mosaic cases [Crowe et al, 1997;Leclercq et al, 2010]. As illustrated in figure 7 , survival of live-born children with non-mosaic trisomy 22 is severely limited, ranging from hours post partum to a maximum of 3 years (observed in 2 cases) [Kukolich et al, 1989;Rao et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

Live-Born Trisomy 22: Patient Report and Review

Heinrich

Nanda

Rehn³

et al. 2012

Mol Syndromol

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Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.

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Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

Cited by 19 publications

References 12 publications

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Trisomía 22 en un recién nacido de 39 semanas

Live-Born Trisomy 22: Patient Report and Review

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