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

Anderson, Carol E.; Wallerstein, Robert S.; 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>3.3.co;2-3

Cited by 4 publications

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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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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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“…Pathogenesis of OMN is unknown. The role of chromosome 4 is very relevant, in the literature there are some cases of OMN associated with anomalies on this chromosome, in the literature cases series we observed this association in 14/48 cases (29.2%) (Anderson et al, ; Park & Chi, ; Sakallioglu & Gok, ; Salomon et al, ). The WHS is described in 7 of these 14 cases.…”

Section: Discussionmentioning

confidence: 58%

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation

Gatto

Ferrara

Leoni

et al. 2017

American J of Med Genetics Pt A

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Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (U /U ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids. Renal biopsy showed oligonephronia with focal segmental glomerulosclerosis associated with initial tubulointerstitial sclerotic atrophy. The child began therapy with Angiotensin-converting enzyme inhibitors (ACE-inhibitors) to reduce proteinuria and progression of chronic kidney disease. In the literature the anomalies of number of glomeruli oligonephronia and oligomeganephronia (OMN) are described in two forms, one without any associated anomalies, sporadic, and solitary and the other with one or more anomalies. Our review of the literature shows that the pathogenesis of this anomaly is unknown but the role of chromosome 4 is very relevant. Many cases of OMN are associated with anomalies on this chromosome, in the literature cases series we observed this association in 14/48 cases (29.2%) and in 7 of these 14 cases with WHS. Our case and the review of literature demonstrate how periodic urinalysis and renal ultrasound monitoring is recommended in patients affected by WHS and the renal biopsy must be performed when there is the onset of proteinuria.

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The central nervous system in microcephalic primordial dwarfism: Is there a characteristic developmental brain pathology in Seckel or Seckel‐like syndrome?

Schmitt

Sergi

2000

Congenital Anomalies

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In spite of the description of more than 70 cases of Seckel syndrome (SS) or Seckel‐like primordial microcephalic dwarfism, reports about investigations into the central nervous system pathology in SS remaind infrequent Here we comment on the thorough neuropathological examination of the brain in a familial case of Seckel‐like microcephalic dwarfism. The male fetus of a 6 gravida, 3 para was aborted at 19 weeks of gestation after prenatal ultrasound examination with the demonstration of severe microcephaly and retarded intrauterine development The propositus had two healthy sisters. Of two aborted fetuses and one deceased sibling, the deceased had also exhibited a Seckel‐like phenotype as well as, in MRI scans, micrencephaly, callosal agenesis and pachygyria. Neuropathological examination of the brain in the propositus resulted in the demonstration of two main categories of changes: (1) defective telencephalic midline structures (arhinencephaly as well as callosal, septal, fornical, and hippocampal agenesis), and (2) impairment of migration (micrencephaly with lack of cortical neuroblasts in both the telencephalon and the rhombencephalon as well as heterotopias in the former). These findings corresponded with those described in the few neuropathological and neuroradiological literature reports, indicating that there appears to be in SS‐like primordial microcephalic dwarfism and a characteristic, although not specific brain pathology which might be adequately summarized by the designation mediodysgenetic micrencephaly. The genetic background of SS as a basis for the CNS maldevelopment is discussed.

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

Cited by 4 publications

References 0 publications

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

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

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation

The central nervous system in microcephalic primordial dwarfism: Is there a characteristic developmental brain pathology in Seckel or Seckel‐like syndrome?

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