Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features

Dutta, Shampa; Bharucha, B. A.; Vaidya, Prashant V.; Khurandal, Sanjeevani A.; Kumta, Narsing B.

doi:10.1007/bf02820196

Cited by 10 publications

(7 citation statements)

References 13 publications

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“… 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%

“…Most of the reported deletions involve 20p12 and are associated with Alagille syndrome (AGS) resulting from a mutation in the JAG 1 gene. A few case reports with 20p deletions other than 20p12 also have been reported [Vianna‐Morgante et al, 1987; Dutta et al, 1991; Rovet et al, 1995; Michaelis et al, 1997; Sauter et al, 2003; Kamath et al, 2008]. Individuals with these deletions have various abnormalities, including developmental delay, Hirschsprung disease, skeletal defects, and dysmorphism.…”

Section: Introductionmentioning

confidence: 99%

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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

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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.

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Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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

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“…Clinical features of Alagille syndrome include cholestatic liver disease, congenital heart defects, ocular and skeletal anomalies and characteristic facial dysmorphism. More proximal deletions, extending outside this critical region, are less described, and currently, only a few cases with proximal 20p deletions have been reported in the literature [Vianna‐Morgante et al, ; Dutta et al, ; Rovet et al, ; Michaelis et al, ; Sauter et al, ; Garcia‐Heras et al, ; Kamath et al, ; Williams et al, ]. These patients display other various abnormalities including developmental delay, autistic features, scoliosis, panhypopituitarism, facial dysmorphism, cleft lip and palate, seizure disorder, Hirschsprung disease, and spina bifida.…”

Section: Introductionmentioning

confidence: 99%

Delineation of a region responsible for panhypopituitarism in 20p11.2

Dayem-Quere

Giuliano

Wagner-Mahler

et al. 2013

American J of Med Genetics Pt A

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We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array-CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The majority of the reported 20p deletions are located on the 20p12 region, covering the JAG1 gene responsible for the Alagille syndrome. More proximal deletions are even rarer, with very few cases described in the literature to date. The deletion carried by our patient is, to our knowledge, the smallest described de novo proximal 20p11.2 deletion. It was first discovered by 0.5 Mb BAC array-CGH, further delineated using an oligonucleotide array, and finally confirmed by fluorescence in situ hybridization. The deletion is 4.22 Mb in size, with the exact location on chr20: 19.810.034-24.031.344 (Feb. 2009, GRCh37/hg19). In light of the other reported cases that display genomic and phenotypic overlap with our patient, we discuss the phenotype of our patient, in order to further delineate the 20p proximal deletion phenotype. We propose a minimal critical region responsible for panhypopituitarism with global developmental delay, intellectual disability, scoliosis and facial dysmorphism. Moreover, considering the deleted genes, we highlight the impact of the deletion of this minimal critical region on the Shh signaling pathway.

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“…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

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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.

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Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features

Cited by 10 publications

References 13 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

Delineation of a region responsible for panhypopituitarism in 20p11.2

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

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