Anatomy of trisomy 18

Roberts, Wallisa; Żurada, Anna; Żurada-Zielińska, Agnieszka; Gielecki, Jerzy; Loukas, Marios

doi:10.1002/ca.22725

Cited by 22 publications

(17 citation statements)

References 14 publications

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“…CMA detected a proximal AC duplication (Chr22:18,640,729‐21,041,014; Figure ) in addition to trisomy 18; however, the patient's phenotype most consistently aligned with that of Edward's Syndrome (Turbiville, Wu, & Dong, ). Trisomy 18 specific phenotypes found in the patient included rocker bottom feet, clenched fists with overriding fingers, strawberry skull and possible mega cisterna magna variation in the central nervous system on ultrasound, and possible malrotation of the bowel (Cereda & Carey, ; Roberts, Zurada, Zurada‐Zieli, Gielecki, & Loukas, ). However, other characteristics found in the patient intersected with symptoms found in the proximal 22q11.2 duplication Cases 1–4 including micrognathia, hypotonia, low birth weight, microcephaly, and cardiovascular defects (small secundum ASD, thickening of semilunar valves, VSD; Table ).…”

Section: Resultsmentioning

confidence: 94%

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Turbiville

et al. 2019

American J of Med Genetics Pt A

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Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype-phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients. K E Y W O R D S chromosome 22q11.2, chromosome microarray, genotype-phenotype correlation, microduplication

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Section: Resultsmentioning

confidence: 94%

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Turbiville

et al. 2019

American J of Med Genetics Pt A

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“…The clinical picture of Edwards Syndrome is broad, with more than 130 anomalies described in the literature, none of these pathognomonic, although there are certain characteristic clinical signs that are highly suggestive (ROSA, 2013). Among these, we highlight the profound delay in psychomotor development (BATY, 1994b); low birth weight and slow growth (BATY, 1994a); craniofacial, trunk and extremities malformations, in addition to internal organs, especially cardiac, renal and central nervous system abnormalities (BATY, 1994a) (LIN, 2006) (CAREY, 2010) (ROSA, 2013) (ROBERTS, 2016).…”

Section: Introductionmentioning

confidence: 92%

Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.

2021

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Aim: Reporting the case of a patient with Edwards syndrome of above-average survival. Edwards syndrome is a chromosomal disorder with multiple and severe congenital malformations, a profound delay in neuropsychomotor development, and an average survival of around 2.5 to 14.5 days. Description: Patient age of seven years and six months, female, who presented at birth, congenital heart disease, microcephaly, micrognathia, cutis marmorata, pectus escavatum and other typical alterations of Edwards Syndrome. Intensive interventions were performed, and karyotype exam confirmed full trisomy of chromosome 18. The patient currently undergoes intensive occupational and speech-language therapy, physiotherapy, and is stable. Comments: Edwards syndrome has a reserved prognosis, and although it is proven that aggressive interventions improve the survival of these patients, there is still no consensus in neonatal resuscitation protocols, and there are differences in perception about prognosis and therapeutic recommendations. However, parental autonomy must always be considered, and it is known that patients who survive to childhood bring positive results in the family circle. The discussion of prognosis and therapy is necessary and should aim at the homogenization of medical conduct.

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“…46 Children with trisomy 13 commonly present with cataract as well as microphthalmia and ocular coloboma; however, they rarely live more than a few days or weeks due to multiple severe congenital abnormalities involving the craniofacial, musculoskeletal, cardiac, abdominal and nervous system. 47 Multiple X-linked disorders demonstrate congenital cataracts (Table 3). Lowe syndrome is X-linked recessive, characterised by a triad of features including dense congenital cataracts, intellectual disability and proximal tubular dysfunction.…”

Section: Inherited Cataractmentioning

confidence: 99%

Congenital cataract: a guide to genetic and clinical management

Bell

Oluonye

Harding³

et al. 2020

Therapeutic Advances in Rare Disease

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Worldwide 20,000–40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. In some metabolic conditions, congenital cataract may be the presenting sign, and therefore prompt diagnosis is important where there is an available treatment. Multidisciplinary management of children is essential, including ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local paediatric visual support services. Early surgery and close follow up in ophthalmology is important to optimise visual potential and prevent amblyopia. Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future. Lay title Childhood cataract: how to manage patients Lay abstract Cataract is a clouding of the lens in the eye. Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. Cataracts may occur on their own, with other eye conditions or be present with other disorders in the body as part of a syndrome. Genetic testing is important for all children with cataract as it can provide valuable information about cause, inheritance and risk to further children and signpost any other features of the disease in the rest of the body, permitting the assembly of the correct multidisciplinary care team. Genetic testing currently involves screening for mutations in 115 genes already known to cause cataract and has been shown to expedite diagnosis and help better manage children. Genetic counselling services can support families in understanding their diagnosis and inform future family planning. In order to optimise vision, early surgery for cataract in children is important. This is because the brain is still developing and an unobstructed pathway for light to reach the back of the eye is required for normal visual development. Any obstruction (such as cataract) if left untreated may lead to permanent sight impairment or blindness, even if it is removed later. A multidisciplinary team involved in the care of a child with cataract should include ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local child visual support services. They will help to diagnose and manage systemic conditions, optimise vision potential and help patients and their families access best supportive care.

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Anatomy of trisomy 18

Cited by 22 publications

References 14 publications

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.

Congenital cataract: a guide to genetic and clinical management

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