A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review

Kariya, Shin; Aoji, Katsuya; Akagi, Hirofumi; Fukushima, Keigo; Chikumoto, E; Ogawa, Teruhiro; Karaki, Masayuki; Nishizaki, Kazunori

doi:10.1016/s0165-5876(00)00409-2

Cited by 22 publications

(12 citation statements)

References 18 publications

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“…S3E). Interestingly, enlarged lateral ventricles has been associated with terminal deletion of the short arm of chromosome 3 (p25-pter) in humans (Kariya et al, 2000). Although in some animals the cortex appeared thinner, layering of the cortex appeared normal, suggesting that WRP is not critical for cortical migration as previously shown for srGAP2 (supplemental Fig.…”

Section: Resultsmentioning

confidence: 99%

WRP/srGAP3Facilitates the Initiation of Spine Development by an Inverse F-BAR Domain, and Its Loss Impairs Long-Term Memory

Carlson¹,

Lloyd²,

Kruszewski³

et al. 2011

J. Neurosci.

110

147

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The WAVE-associated Rac GAP, WRP, is thought to regulate key aspects of synapse development and function and may be linked to mental retardation in humans. WRP contains a newly described inverse F-BAR (IF-BAR) domain of unknown function. Our studies show that this domain senses/facilitates outward protrusions analogous to filopodia and that the molecular basis for this is likely explained by a convex lipid-binding surface on the WRP IF-BAR domain. In dendrites the IF-BAR domain of WRP forms a bud on the shaft from which precursors to spines emerge. Loss of WRP in vivo and in vitro results in reduced density of spines. In vivo this is primarily a loss of mushroom-shaped spines. Developmentally, WRP function is critical at the onset of spinogenesis, when dendritic filopodia are prevalent. Finally, because WRP is implicated in mental retardation, behaviors of WRP heterozygous and null mice have been evaluated. Results from these studies confirm that loss of WRP is linked to impaired learning and memory.

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Section: Resultsmentioning

confidence: 99%

WRP/srGAP3Facilitates the Initiation of Spine Development by an Inverse F-BAR Domain, and Its Loss Impairs Long-Term Memory

Carlson¹,

Lloyd²,

Kruszewski³

et al. 2011

J. Neurosci.

110

147

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“…Verjaal and De Nefl [Verjaal and De Nefl, ] described the first case of 3p deletion syndrome, characterized by low birth weight, developmental delay, growth retardation, and dysmorphic facial features. Since then several cases with this syndrome are reported [Verjaal and De Nefl, ; Schwyzer et al, ; Angeloni et al, ; Sotgia et al, ; Kariya et al, ; Cargile et al, ; Fernandez et al, ; Sims et al, ] (Fig. A).…”

Section: Introductionmentioning

confidence: 99%

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four‐generation family

Moghadasi

Haeringen

Langendonck

et al. 2014

American J of Med Genetics Pt A

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Terminal deletions of the distal part of the short arm of chromosome 3 cause a wide range of phenotypes from normal to dysmorphic including microcephaly, developmental delay and intellectual disability. We studied the clinical consequences of a terminal deletion of the short arm of chromosome 3 in four generations of a family. The index patient is a14-month-old boy with microcephaly, corpus callosum dysgenesis, and minor dysmorphic features. Single Nucleotide Polymorphism (SNP) array analysis detected a duplication on the long arm of chromosome 6. His apparently healthy mother carries the same 6q duplication, but as an unexpected finding a terminal deletion of 2.9 Mb of the short arm of chromosome 3 was observed. Further co-segregation analysis in the family for the chromosome 3 deletion showed that with the exception of the sister of the index who has autism, speech delay, and learning problems, family members in four generations of this family are carrier of this 3p deletion and apparently healthy. To our knowledge, this is the first report of a study of this terminal 3p deletion in four generations. In this report, we review the literature on terminal 3p deletions and discuss the importance of molecular testing and reporting of copy number variants to achieve accurate genetic counseling in prenatal and postnatal screening.

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“…To date, less than 30 patients with 3p25-p26 deletions have been described [Verjaal and Nef, 1978;Merrild et al, 1981;Schwyzer et al, 1987;Narahara et al, 1990;Nienhaus et al, 1992;Mowrey et al, 1993;Phipps et al, 1994;Knight et al, 1995;Drumheller et al, 1996;McClure et al, 1996;Angeloni et al, 1999;Benini et al, 1999;Wahlstrom et al, 1999;Green et al, 2000;Kariya et al, 2000;Cargile et al, 2002;Endris et al, 2002;Fernandez et al, 2004;Higgins et al, 2004;Malmgren et al, 2007]. Characteristic features of distal 3p-syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures and microagnathia.…”

Section: Introductionmentioning

confidence: 99%

Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)

Shuib

McMullan

Rattenberry

et al. 2009

American J of Med Genetics Pt A

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Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients. Previously we reported on an association between the presence of CHD and the proximal extent of the deletion such that a CHD susceptibility gene was mapped between D3S1263 and D3S3594. In addition, we and others have suggested several candidate genes for the psychomotor retardation usually seen with constitutional 3p25 deletions. In order to further investigate genotype-phenotype correlations in 3p- syndrome we analyzed 14 patients with cytogenetically detectable deletions of 3p25 (including one patient with a normal phenotype) using Affymetrix 250K SNP microarrays. Deletion size varied from approximately 6 to 12 Mb. Assuming complete penetrance, a candidate critical region for a CHD susceptibility gene was refined to approximately 200 kb and a candidate critical region for mental retardation was mapped to an approximately 1 Mb interval containing SRGAP3 but other 3p neurodevelopmental genes including CHL1, CNTN4, LRRN1, and ITPR1 mapped outside the candidate critical interval. We suggest that current evidence suggests that SRGAP3 is the major determinant of mental retardation in distal 3p deletions.

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A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review

Cited by 22 publications

References 18 publications

WRP/srGAP3Facilitates the Initiation of Spine Development by an Inverse F-BAR Domain, and Its Loss Impairs Long-Term Memory

WRP/srGAP3Facilitates the Initiation of Spine Development by an Inverse F-BAR Domain, and Its Loss Impairs Long-Term Memory

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four‐generation family

Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)

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