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

Reddy, Kavita S.; Flannery, David B.; Farrer, R. James

doi:10.1002/(sici)1096-8628(19990611)84:5<460::aid-ajmg10>3.0.co;2-l

Cited by 36 publications

(37 citation statements)

References 24 publications

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“…Similarly with other two cases with cytogenetic abnormalities, it is the presence in our case of both mental retardation and left kidney enlargerment [7,8]. On the other hand, the deletion of 2q37.3 was previously associated with mild or moderate developmental delay including mental retardation, facial dysmorphism, brachymetaphalangism and visceral anomalies [11,12]. There are four yet-uncharacterized genes (AKO097934, FLJ38379, LOC728323, LOC441309) in the region of overlap of this deletion and we hypothesize that any of these genes could be related to developmental delay and some degree of mental retardation.…”

Section: Discussionsupporting

confidence: 85%

Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Puiu

Stoica

Sosoi

et al. 2013

Fetal and Pediatric Pathology

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Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular girdle and right lower limb; and muscle atrophy on left lower limb with marked body asymmetry, scoliosis and toe malformations. These pathological features are associated with moderate mental retardation, mild renal and hepatic abnormalities. We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS.

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Section: Discussionsupporting

confidence: 85%

Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Puiu

Stoica

Sosoi

et al. 2013

Fetal and Pediatric Pathology

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“…Genetically, in humans, various mutations of chromosomes 2,4,6,7,10,11,12,13,14,18,19,22, and X are known or to cause, or are suspected of causing, left-right axis maldevelopment (Fujinaga 1997;Meeks et al 2000;Pan et al 1998;Reddy et al 1999;Vitale et al 2001). Chromosomes inversus viscerum (iv) and inversion of embryonic turning (inv) of the mouse are known to cause left-right axis maldevelopment if mutated, and these two chromosomes are homologous to human chromosomes 4 and 12, respectively.…”

Section: Discussionmentioning

confidence: 99%

Intracranial anatomic asymmetry in situs inversus totalis

et al. 2003

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Situs inversus is a rare condition in which the position of the thoracic and the abdominal viscera are exchanged from the left to the right sides. A possible inversion of normal dominant intracranial anatomy, has however, rarely been discussed. We examine here the gross anatomy of an elderly cadaveric female for a possible "situs inversus" of the intracranial contents. This study has found that many structures commonly dominant on one side in the intracranial compartment were reversed in this specimen. These findings support the concept that a reversal of more commonly found intracranial anatomy may occur in situs inversus totalis, and this should alert the clinician performing invasive procedures in this population. These data will also hopefully provide further insight into possible mechanisms that contribute to situs inversus totalis.

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“…To evaluate further diagnostic criteria for the 2q37 deletion syndrome, we compared the clinical findings of our patients and a representative cohort of other published patients carrying HDAC4 mutations or overlapping interstitial or terminal 2q37 deletions ( Figure 3, Table 1). 3,5,[15][16][17][18][19][20][21][22][23][24] The female to male ratio was 21/6. Regarding the body measurements, 4/18 of the patients were microcephalic, 8/24 revealed a short stature and 7/20 an overweight.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

et al. 2012

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Deletions of the chromosomal region 2q37 cause brachydactyly-mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome. Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE). We report here on the first three generation familial case of BDMR syndrome with inheritance of an interstitial microdeletion of chromosome 2q37.3. The deletion was detected by array comparative genomic hybridization and comprises the HDAC4 gene and two other genes. The patients of this pedigree show a variable severity of psychomotor and behavioural abnormalities in combination with a specific facial dysmorphism but without BDE. Given that only about half of the patients with 2q37 deletions have BDE; we compared our patients with other patients carrying 2q37.3 deletions or HDAC4 mutations known from the literature to discuss the diagnostic relevance of the facial dysmorphism pattern in 2q37.3 deletion cases involving the HDAC4 gene. We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.

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

Cited by 36 publications

References 24 publications

Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Intracranial anatomic asymmetry in situs inversus totalis

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

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