Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

White, Derrick; Pillers, De Ann M.; Reiss, James; Brown, Michael G.; Magenis, R. Ellen

doi:10.1002/ajmg.1320570415

Cited by 37 publications

(30 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, we hypothesized that the variation in the banding pattern at 4p15 may have been due to deletion of a part of the 4p15 band, which should produce phenotypic features of 4p deletion syndrome in the propositus. In fact, the patient did have microcephaly, micropthalmia, eye coloboma, and joint hypermobility which have been reported previously in patients with 4p-syndrome [Francke et al, 1977;Nielsen et al, 1977;Ray et al, 1984;White et al, 1995]. On the other hand, our patient did not have typical findings of 4p-syndrome, which may be attributed to the fact that only a part of 4p15.3 was deleted with limited phenotypic consequences.…”

Section: Discussioncontrasting

confidence: 55%

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Yenamandra¹,

DeAngelo²,

Aviv³

et al. 1997

Am. J. Med. Genet.

View full text Add to dashboard Cite

A 45,X chromosome complement was found in the lymphocytes and skin fibroblast cultures of a male infant with minor facial anomalies and gastrointestinal abnormalities. Fluorescence in situ hybridization (FISH) studies with DNA probes specific for the entire Y chromosome (painting) and SRY identified insertion of a short piece of Y chromosome DNA, including the SRY region, into a der(4) chromosome at 4p15. FISH studies with DNA probes specific for Wolf-Hirschhorn syndrome (WHS) and telomere of 4p indicated that these 2 regions were intact and that the insertion of Y DNA had occurred proximal to the WHS region. High-resolution chromosome analysis performed after FISH studies showed an altered banding pattern of 4p at the region of insertion. The typical Giemsa dark band of 4p15 was consistently replaced by a gray band; this probably indicates deletion of the distal part of 4p15. The consequences of the double-chromosome anomaly in this patient were discussed in relation to his phenotype.

show abstract

Section: Discussioncontrasting

confidence: 55%

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Yenamandra¹,

DeAngelo²,

Aviv³

et al. 1997

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…This pleiotrophy, the variation in phenotype from a single genetic cause (del 4p), may be due to the size of the deletion and may be exacerbated by the unmasking of deleterious alleles on the normal chromosome. Two recent papers provide evidence for phenotypic variation associated with the deletion of specific segments of chromosome 4 [Estabrooks et al, 1995;White et al, 1995].…”

Section: Discussionmentioning

confidence: 98%

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs

et al. 1997

View full text Add to dashboard Cite

Wolf-Hirschhorn syndrome (WHS) is a multiple anomaly condition characterized by mental and developmental defects, resulting from the absence of the distal segment of one chromosome 4 short arm (4p16.3). Owing to the complex and variable expression of this disorder, it is thought that the WHS is a contiguous gene syndrome with an undefined number of genes contributing to the phenotype. The 2.2 Mbp genomic segment previously defined as the critical region by the analyses of patients with terminal or interstitial deletions is extremely gene dense and an intensive investigation of the developmental role of all the genes contained within it would be daunting and expensive. Further refinement in the definition of the critical region would be valuable but depends on available patient material and accurate clinical evaluation. In this study, we have utilized fluorescence in situ hybridization to further characterize a WHS patient previously demonstrated to have an interstitial deletion and demonstrate that the distal breakpoint occurs between the loci FGFR3 and D4S168. This reduces the critical region for this syndrome to less than 750 kbp. This has the effect of eliminating several genes previously proposed as contributing to this syndrome and allows further research to focus on a more restricted region of the genome and a limited set of genes for their role in the WHS syndrome.

show abstract

“…The major features include limb anomalies, minor congenital heart disease, hypogonadism, facial dysmorphism, tall and thin habitus, cafe-au-lait spots, developmental delay, and intellectual disability [Ray et al, 1984;Romain et al, 1985;Fryns et al, 1989;Davies et al, 1990;Ishikawa et al, 1990;Chitayat et al, 1995;White et al, 1995;Gawlik-Kuklinska et al, 2008;Nakayama et al, 2014]. The critical region for proximal 4p deletion syndrome has been refined to 4p15.2p15.33.…”

Section: Discussionmentioning

confidence: 99%

“…Currently, more than 20 cases of proximal 4p deletion syndrome have been reported, and the critical region has been assigned to 4p15.2p15.33 [Ray et al, 1984;Romain et al, 1985;Fryns et al, 1989;Davies et al, 1990;Ishikawa et al, 1990;Chitayat et al, 1995;White et al, 1995;GawlikKuklinska et al, 2008;Nakayama et al, 2014]. However, duplication of this region has not been reported to our knowledge.…”

mentioning

confidence: 96%

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

Liang

Xie²,

Shen³

et al. 2016

Cytogenet Genome Res

View full text Add to dashboard Cite

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome.

show abstract

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

Cited by 37 publications

References 34 publications

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

Contact Info

Product

Resources

About