Mother and son with deletion of 3p25‐pter

Tazelaar, J.; Roberson, Jacquelyn; Dyke, Daniel L. Van; Babu, V. Ramesh; Weiss, Lester

doi:10.1002/ajmg.1320390203

Cited by 24 publications

(15 citation statements)

References 8 publications

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“…[37][38][39] Remarkably, Knight et al 39 reported a phenotypically normal mother and child both with a terminal 3p25.3 deletion, which suggests that a deletion distal to 3p25.3 does not need to have an apparent deleterious effect.…”

Section: Pmentioning

confidence: 99%

Telomeres: a diagnosis at the end of the chromosomes

Vries

Winter

Schinzel³

et al. 2003

Journal of Medical Genetics

215

190

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Section: Pmentioning

confidence: 99%

Telomeres: a diagnosis at the end of the chromosomes

Vries

Winter

Schinzel³

et al. 2003

Journal of Medical Genetics

215

190

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“…This rare chromosome disorder has arisen de novo in most reported cases, and is typically a terminal deletion of the short arm of chromosome 3 with breakpoints mapping to chromosome band 3p25 [Verjaal and De Nef, 1978;Garcia Segredo et al, 1981;Witt et al, 1981;Higginbottom et al, 1982;Reifen et al, 1986;Scwyer et al, 1987;Tazelaar et al, 1991;Mowrey et al, 1993;Phipps et al, 1994;Drumheller et al, 1996;Green et al, 2000]. The most common features include low birthweight, growth delay, mental and psychomotor retardation, microcephaly, triangular face, hypotonia, ptosis, hypertelorism, short nose with broad nasal tip, long philtrum, and micrognathia.…”

Section: Introductionmentioning

confidence: 96%

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

et al. 2002

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Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consistent with deletion 3p syndrome (ptosis, microcephaly, growth retardation, and developmental delay) and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26.2). Fluorescence in situ hybridization (FISH) studies using 3p subtelomeric probes confirmed the terminal region of chromosome 3 was present. Sequence tagged sites (STS)-linked BAC clones mapping to chromosomal region 3p25-p26 were used to characterize the interstitial deletion by FISH. The results indicate the deletion is within a region of approximately 4.5 Mb between STS markers D3S3630 and D3S1304. This interstitial deletion lies within all previously reported terminal deletions in deletion 3p syndrome individuals, and represents the smallest reported deletion associated with deletion 3p syndrome. Characterization of the deletion may help identify genes important to growth and development that contribute to the deletion 3p syndrome phenotype when present in a hemizygous state.

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“…A total of 22 cases have been reported and apart from one mother and son pair, all cases have arisen de novo (1)(2)(3)(4)(5). Characteristic features include low birthweight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures and micrognathia.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetic analysis of the 3p — syndrome

et al. 1994

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Molecular genetic analysis of five cases of 3p-syndrome (del(3)(qter-p25:)) was performed to investigate the relationship between the molecular pathology and clinical phenotype. Fluorescence in situ hybridization studies and analysis of polymorphic DNA markers from chromosome 3p25 -p26 demonstrated that all four informative cases had distal deletions. However, the extent of the deletion was variable: in two patients with the most extensive deletions the deletion breakpoint mapped between RAF1 and D3S1250, in one patient the deletion breakpoint was between D3S1250 and D3S601, and in two patients the deletion commenced telomeric to D3S601 (and telomeric to D3S1317 in one of these). All five patients displayed the classical features of 3p-syndrome (mental retardation, growth retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p-syndrome phenotype. The three patients with the most extensive deletions had cardiac septal defects suggesting that a gene involved in normal cardiac development is contained in the interval D3S1250 and D3S18. The PMCA2 gene is contained within this region and deletion of this gene may cause congenital heart defects. At least three patients were deleted for the von Hippel -Lindau (VHL) disease gene although none had yet developed evidence of VHL disease. We conclude that molecular analysis of 3p-syndrome patients enhances the management of affected patients by identifying those at risk for VHL disease, and can be used to elucidate the critical regions for the 3p-syndrome phenotype.

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Mother and son with deletion of 3p25‐pter

Cited by 24 publications

References 8 publications

Telomeres: a diagnosis at the end of the chromosomes

Telomeres: a diagnosis at the end of the chromosomes

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

Molecular genetic analysis of the 3p — syndrome

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