314 research outputs found
Amniotic bands in paternal half-siblings
No full textWe present two paternal half-siblings with constriction rings and limb reduction deformities, which seem to have been caused by amniotic bands. Their father has no evidence of amniotic bands nor any other congenital malformations and there is no wider family history of such malformations. There are few other reports of familial amniotic bands and these are either in mother–child pairs, siblings or in distant relatives. This is the first report of recurrence in paternal half-siblings. Although no exact cause can be identified, this suggests that some genetic fetal factor, or factors, must be responsible for the amniotic bands in these case
A novel 2.43 Mb deletion of 7q11.22-q11.23
No full textWe present a patient with a novel heterozygous deletion of 7q11.22-q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, he does not have the clinical gestalt of Williams syndrome. 44k oligo array CGH analysis showed a 2.43 Mb deletion, encompassing the proximal 1.43 kb of the Williams syndrome critical region and extending approximately 1 Mb beyond it. The deletion of further genes outside the Williams syndrome critical region does not appear to be having a phenotypic effect at presen
A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’
No full textWe present a 12-year-old with a de novo interstitial deletion of approximately 2.3 Mb in chromosome band 17q24-2eq24.3, which was identified by array CGH. The most characteristic features in this case are posterior laryngeal cleft and the presence of numerous freckles and lentigines in childhood. Growth restriction, microcephaly and moderate mental retardation are also prominent features but are frequently
seen with other chromosomal anomalies. The microdeletion causes haploinsufficiency of PRKAR1A (protein kinase, cAMP-dependent, regulatory 1?), which is known to cause Carney Complex but this diagnosis alone does not account for all of her problems and she therefore has ‘Carney Complex plus’.
This report illustrates the practical benefits associated with a clear cytogenetic diagnosis, as regular endocrinological and cardiac screening is required
La niña, la hamaca y el árbol. Relato breve
No full textFil: Millan, Moira. Universidad Nacional de Luján. Departamento de Educación; Argentina.La autora es escritora y luchadora social mapuche, impulsora de las Marchas de Mujeres Originarias por el Buen Vivir y el Parlamento de Mujeres Originarias, y co-autora del film “Pupila de mujer.The author is a Mapuche writer and social activist, promoter of the Native Women's Marches for Good Living and the Native Women's Parliament, and co-author of the film “Pupila de mujer
Colour me
No full textWe are all different. But together we colour our world amazing.Using the rainbow as a metaphor for our diversity and uniqueness, Indigenous author Ezekiel Kwaymullina joins forces with award-winning illustrator Moira Court in this gorgeous new picture book. Luminous screen prints and evocative prose celebrate every individual colour as well as the power of their combinatio
What’s in a Name? Reading the Character of Mary/Moira in Jane Urquhart’s Away
No full textThis article analyses the various connotations of the name of the protagonist in Jane Urquhart’s Irish-Canadian novel Away, first published in 1993. The heroine Mary changes her name to Moira at the start of the book, which leads the reader to ponder on the significance of these names. By exploring the classical, topographical, naval, linguistic and religious undertones of Mary/Moira, this study seeks to demonstrate how the Canadian author conveys notions of postcolonialism throughout her novel with the choice of a character’s name
Severe Marfan syndrome due to FBN1 exon deletions
No full textMarfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrom
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