Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome

Anderson, Carol E.; Wallerstein, Robert; Zamerowski, Suzanne T.; Witzleben, Camilus; Hoyer, John R.; Gibas, Longina; Jackson, Laird G.

doi:10.1002/(sici)1096-8628(19971031)72:3<281::aid-ajmg5>3.0.co;2-u

Cited by 30 publications

(15 citation statements)

References 10 publications

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“…Recent studies have indicated that certain genetic factors might be involved in the occurrence of OMN [6][7][8]. OMN has also been described in children with multiple anomalies [6,9,10].…”

Section: Discussionmentioning

confidence: 99%

Oligomeganephronia in an adult without end stage renal failure

et al. 2011

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A 23 year-old male was investigated for hypertension, moderate renal insufficiency, persistent proteinuria and bilateral small kidneys. The renal pathological features were diagnostic with greatly enlarged glomeruli (the mean diameter was 325 μm, which was approximately two times larger than normal glomeruli), indicating oligomeganephronia (OMN). He also showed malrotated kidneys, expanded extrarenal pelvis, and hearing loss. Thus, these clinical and pathological features aided in diagnosing the renal disorder as OMN. This is a very rare case of OMN, which did not advance to end-stage renal failure as an adult. We believe that multiple anomalies might be suggestive findings of OMN in patients, such as renal insufficiency, persistent proteinuria, and bilateral small kidneys.

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“…Recent studies have indicated that certain genetic factors might be involved in the occurrence of OMN [6][7][8]. OMN has also been described in children with multiple anomalies [6,9,10].…”

Section: Discussionmentioning

confidence: 99%

Oligomeganephronia in an adult without end stage renal failure

et al. 2011

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“…Among 16 subjects with r(4) 9 , one had bilateral renal agenesis 10 and another one, with a 4p deletion distal to the WHS critical region, had smaller than expected kidneys at renal ultrasound, with a diagnosis of oligomeganephronia based on electron microscopy studies. 11 We might hypothesise that haploinsufficiency for a gene located in the telomeric 760 kb of 4p is responsible for abnormal kidney development, although with incomplete penetrance.…”

Section: Discussionmentioning

confidence: 99%

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

Concolino

Rossi

Strisciuglio

et al. 2007

Journal of Medical Genetics

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“…The gene for oligomeganephronia has not been mapped to date. However, two patients with ring chromosome 4 and one patient with deletion of chromosome 4p who had oligomeganephronia have been reported (65, 66). Interestingly, the short arm of chromosome 4 has been implicated in SHFM, as a patient with split hand and Wolf–Hirschorn syndrome has been described (67).…”

Section: Discussionmentioning

confidence: 99%

Discrepancies in upper and lower limb patterning in split hand foot malformation

Elliott¹,

Reed²,

Roscioli³

et al. 2005

Clinical Genetics

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Discrepancies in upper and lower limb patterning in split hand foot malformation. Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variability make genetic counselling of SHFM families challenging. By establishing genotype/phenotype correlations, one can provide insight into responsible developmental genes and help to direct mapping efforts and target genetic testing, ultimately providing more accurate information for family members. Preaxial involvement of the upper extremities was a significant discriminating limb-specific variable in our analysis of genetically mapped SHFM cases. This finding, which was originally identified through descriptive epidemiology, was subsequently confirmed by discriminant function analysis (p < 0.0001) to be a significant locus discriminator. Preaxial involvement of the upper extremities was most commonly seen at the SHFM3 locus mapped to chromosome 10q24 (OMIM 600095) and consisted of proximally placed thumbs and/or triphalangeal thumbs (TPT), preaxial polydactyly and/or absence of the first ray. These patients' feet, however, tended to show a classical central longitudinal deficiency without a significant preaxial component. This article discusses this discrepant clefting pattern between the upper and lower extremities and proposes potential mechanisms.

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Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome

Cited by 30 publications

References 10 publications

Oligomeganephronia in an adult without end stage renal failure

Oligomeganephronia in an adult without end stage renal failure

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

Discrepancies in upper and lower limb patterning in split hand foot malformation

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