Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

Allotey, Jacqueline; Lacaille, Florence; Lees, Melissa; Strautnieks, Sandra; Rj, Thompson; Davenport, Mark

doi:10.1016/j.jpedsurg.2008.05.012

Cited by 38 publications

(19 citation statements)

References 18 publications

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“…The latter could be further subdivided into BASM (n = 41, 13%), CBA (n = 33, 11%) and the cat-eye syndrome16 (n = 2). There were also seven (2.3%) infants who had other major anomalies, not defined as syndromic (for example, exomphalos, oesophageal atresia, duodenal atresia).…”

Section: Resultsmentioning

confidence: 99%

Epidemiology of biliary atresia in England and Wales (1999-2006)

Livesey

Borja²,

Sharif

et al. 2009

Archives of Disease in Childhood - Fetal and Neonatal Edition

112

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Section: Resultsmentioning

confidence: 99%

Epidemiology of biliary atresia in England and Wales (1999-2006)

Livesey

Borja²,

Sharif

et al. 2009

Archives of Disease in Childhood - Fetal and Neonatal Edition

112

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“…The example for this is the so-called cat-eye syndrome (coloboma, ano-rectal atresia etc.) and in these chromosomal aneuploidy (Ch 22) has been shown [11]. …”

Section: Introductionmentioning

confidence: 99%

Aetiology of biliary atresia: what is actually known?

Petersen

Davenport

2013

Orphanet J Rare Dis

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108

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Biliary atresia (BA) is a rare disease of unknown etiology and unpredictable outcome, even when there has been timely diagnosis and exemplary surgery. It has been the commonest indication for liver transplantation during childhood for the past 20 years. Hence much clinical and basic research has been directed at elucidating the origin and pathology of BA. This review summarizes the current clinical variations of BA in humans, its occasional appearance in animals and its various manifestations in the laboratory as an experimental model.

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“…In fact, preauricular tags/pits are the most consistent feature in CES [Rosias et al, 2001], and only 41% of CES patients have the classical combination of iris coloboma, anal anomalies, and preauricular anomalies [Berends et al, 2001]. Clinically, multiple variations of sSMC 22 have been described with no real correlation to the classical phenotype [Allotey et al, 2008]. In 2 of the patients in the present study the developmental delay may be attributed to complications in the perinatal period.…”

Section: Resultsmentioning

confidence: 99%

“…Different sSMCs containing the 22q11.2 region have been described, including the typical bisatellited cat eye syndrome (CES, OMIM #115470) chromosomes and the sSMCs 22 derived from the recurrent balanced t(11; 22) (q23;q11) translocation that results in Emanuel syndrome [Carter et al, 2009]. These rearrangements result in 4 or 3 copies of the proximal 22q region, all producing overlapping phenotypes among the syndromes [Bartsch et al, 2005;Allotey et al, 2008]. CES is a rare syndrome char-…”

mentioning

confidence: 99%

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

Belangero

Pacanaro

Bellucco

et al. 2012

Cytogenet Genome Res

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A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter→q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.

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Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

Cited by 38 publications

References 18 publications

Epidemiology of biliary atresia in England and Wales (1999-2006)

Epidemiology of biliary atresia in England and Wales (1999-2006)

Aetiology of biliary atresia: what is actually known?

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

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