18p Monosomy syndrome

Kane, Henry A.; Borgaonkar, Digamber S.; McDermott, Matthew J.; Septimus, Stuart; Movahhedian, H R

doi:10.1007/bf02238424

Cited by 4 publications

(4 citation statements)

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“…Specific anatomic types are shown in Table II. A variety of CHDs is noticeable [Coetsier and Orye, 1967; Vaillaud et al, 1970; Giraud et al, 1971; Cohen and Putnam, 1972; Faust et al, 1976; Nakano et al, 1977; Pearl, 1989; Movahhedian et al, 1991; Kane et al 1991; El Kalla et al, 1992; Telvi et al, 1995; Nazarenko et al, 1999]. Interestingly, situs abnormalities were diagnosed in three patients.…”

Section: Discussionmentioning

confidence: 99%

“…Isolated dextrocardia was present in one of them [Nakano et al, 1977]. Complete situs inversus associated with subaortic ventricular septal defect and pulmonary stenosis was diagnosed in another patient [Movahhedian et al, 1991; Kane et al, 1991]. In a third patient presenting heterotaxy with tetralogy of Fallot and with azygos continuation of the inferior vena cava to the right superior vena cava and of the left superior vena cava to the coronary sinus, the del 18p was caused by a Y/18 translocation [El Kalla et al, 1992].…”

Section: Discussionmentioning

confidence: 99%

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Heterotaxy with left atrial isomerism in a patient with deletion 18p

et al. 2000

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We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism. Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be consid- ered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Heterotaxy with left atrial isomerism in a patient with deletion 18p

et al. 2000

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“…Complex heart defects are common and other clinically significant abnormalities are asplenia, intestinal malrotation, and abnormalities of the biliary system, and also some midline defects of the lumbosacral spine and hindgut. The cytogenetic abnormalities in single cases reported with situs abnormalities are: translocations, t(7;16)(p22;q24) [Warburton, 1991], t(12;13)(q13.1;p13)mat [Wilson et al, 1991], t(6;18)(q21 or q22;q21.3 orq22) [Kato et al, 1997], and t(11;20)(q13.1;q13.13)pat [Freeman et al, 1996]; deletions, del Xq26 [Ferrero et al, 1997], del(18)(qter→p11:) [Kane et al, 1991]; insertion, ins(7;8)(q22;q12q24) [Koiffmann et al, 1993]; inversion, inv(11)(q13q25) [Fukushima et al, 1993], and paternal isodisomy:paternal uniparental disomy, upd(7)pat [Pan et al, 1998]. However, many genes have been implicated in normal and abnormal situs determination.…”

Section: Discussionmentioning

confidence: 99%

Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

Reddy

Flannery

Farrer³

1999

Am. J. Med. Genet.

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We report on two cases of microdeletion of chromosome sub-band 2q37.3 with abnormal situs viscerum. The first patient had dextrocardia, duodenal and jejunal atresia, and an abdominal hernia. The liver was in the left upper quadrant, stomach in the right upper quadrant. In contrast anema the ascending colon was in the left, and descending colon on the right, with an area of atresia in the mid-jejunum. The second patient had malrotation and malposition of large and small bowel, with most of the bowels positioned above the liver and spleen. There was incomplete rotation of the cecum. The right kidney was malrotated and mal-positioned. The finding of 2q37.3 deletion in both patients implies that a locus or loci involved in the development of normal body situs lies within this chromosome region. Molecular cytogenetic evaluation for a possible 2q37.3 deletion should be considered in patients with abnormal situs viscerum.

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“…The probability that a chromosomal region contains genes involved in laterality establishment is increased if laterality phenotypes are seen in multiple individuals with lesions in that region. Several chromosome locations fit this description (Table 3), including deletions of 2q37 (154,190) and multiple breakpoints and deletions of chromosome 18p that are associated with laterality defects (43,45,74,122). Several chromosomal defects also correspond to the locations of genes implicated in L-R development of other vertebrates.…”

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confidence: 88%

Untitled

2003

Annu. Rev. Genom. Hum. Genet.

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Many internal organs in the vertebrate body are asymmetrically oriented along the left-right (L-R) body axis. Organ asymmetry and some components of the molecular signaling pathways that direct L-R development are highly conserved among vertebrate species. Although individuals with full reversal of organ L-R asymmetry (situs inversus totalis) are healthy, significant morbidity and mortality is associated with perturbations in laterality that result in discordant orientation of organ systems and complex congenital heart defects. In humans and other vertebrates, genetic alterations of L-R signaling pathways can result in a wide spectrum of laterality defects. In this review we categorize laterality defects in humans, mice, and zebrafish into specific classes based on altered patterns of asymmetric gene expression, organ situs defects, and midline phenotypes. We suggest that this classification system provides a conceptual framework to help consolidate the disparate laterality phenotypes reported in humans and vertebrate model organisms, thereby refining our understanding of the genetics of L-R development. This approach helps suggest candidate genes and genetic pathways that might be perturbed in human laterality disorders and improves diagnostic criteria.

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18p Monosomy syndrome

Cited by 4 publications

References 1 publication

Heterotaxy with left atrial isomerism in a patient with deletion 18p

Heterotaxy with left atrial isomerism in a patient with deletion 18p

Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

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