Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

Silengo, Margherita; Bell, G. Lopez; Biagioli, Maurizio; Franceschini, P

doi:10.1111/j.1399-0004.1988.tb03420.x

Cited by 20 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… b Cases reported by Anad et al [1990], patient 3, and other studies [Kalousek and Therien, 1976; Kogame et al, 1978; Byrne et al, 1986; Vianna‐Morgante et al, 1987; Kiss and Osztovics, 1988; Silengo et al, 1988; Schnittger et al, 1989; Legius et al, 1990; Dutta et al, 1991; Teebi et al, 1992; Rovet et al, 1995; Garcia‐Heras et al, 2005]. …”

Section: Discussionmentioning

confidence: 97%

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder

Williams

Wetherbee

Rosenfeld

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary gland on MRI of the brain; cleft lip and palate; kyphosis with anterior beaking of L1 and L2 vertebral bodies; pulmonic stenosis; dysmorphic facial features including flat nasal bridge, hypoplastic premaxilla, hypotelorism, preauricular pit, and cupped ears; seizure disorder; variable muscle tone; and global developmental delay. Array comparative genomic hybridization revealed this deletion to be approximately 5.4 Mb in size, containing 35 genes. Previously, an infant with 20p11.22 deletion who had panhypopituitarism, craniofacial, and genital abnormalities was reported, but the precise parameters of that deletion are unavailable. Several other reported cases of 20p11 deletions also have phenotypic overlap with our case. The similarities in clinical features of these patients suggest that the genes at 20p11 have a critical role in development of midline brain structures.

show abstract

Section: Discussionmentioning

confidence: 97%

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder

Williams

Wetherbee

Rosenfeld

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…All these published deletions encompass the JAG1 gene known to cause Alagille syndrome. There have also been a few reports of interstitial deletions of 20p [Silengo et al, 1988; Schnittger et al, 1989; Anad et al, 1990; Legius et al, 1990; Zhang et al, 1990; Dutta et al, 1991; Teebi et al, 1992; Spinner et al, 1994; Rand et al, 1995; Rovet et al, 1995; Li et al, 1996; Krantz et al, 1997; Michaelis et al, 1997; Oda et al, 2000; Leprêtre et al, 2001; Laufer‐Cahana et al, 2002; Garcia‐Heras et al, 2005; Kamath et al, 2008]. These interstitial deletions again have encompassed the JAG1 gene with one exception [Leprêtre et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

A tale of two deletions: A report of two novel 20p13 → pter deletions

McGill

Pastore

Herman

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification.

show abstract

“…Deletions of the short arm of chromosome 20 are a relatively rare chromosome abnormality, with less than 35 such patients reported in the literature (Anad, et al, 1990; Byrne, et al, 1986; Dutta, et al, 1991; Garcia-Cruz, et al, 1985; Garcia-Heras, et al, 2005; Kiss and Osztovics, 1988; Krantz, et al, 1997; Laufer-Cahana, et al, 2002; Legius, et al, 1990; Li, et al, 1996; Michaelis, et al, 1997; Oda, et al, 2000; Rand, et al, 1995; Rovet, et al, 1995; Sauter, et al, 2003; Schnittger, et al, 1989; Shohat, et al, 1991; Silengo, et al, 1988; Spinner, et al, 1994; Teebi, et al, 1992; Zhang, et al, 1990). The observation that multiple patients with deletions of 20p12 had the autosomal dominant disorder Alagille syndrome (AGS; MIM# 118450), led to the positional cloning of the AGS disease gene, Jagged1 ( JAG1 ; MIM# 601920) (Li, et al, 1997; Oda, et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

et al. 2009

View full text Add to dashboard Cite

The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and 5 relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to 1) more accurately determine the deletion sizes, 2) identify and compare breakpoints, 3) establish genotype/phenotype correlations and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95kb to 14.62Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95kb and 4Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome. The proximal and distal boundaries of these eleven deletions constitute a 5.4MB region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1 associated critical region, in which deletions do not confer findings other than those associated with Alagille syndrome. The other 10 patients had deletions between 3.28Mb and 14.62Mb, which extended outside the critical region, and notably, all of these patients, had developmental delay. This group had other findings such as autism, scoliosis and bifid uvula. We identified 47 additional polymorphic genome-wide copy number variants (>20 SNPs), with 0-5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities.

show abstract

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

Cited by 20 publications

References 8 publications

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder

A tale of two deletions: A report of two novel 20p13 → pter deletions

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Contact Info

Product

Resources

About