A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Cario, Holger; Bode, Harald; Gustavsson, Peter; Dahl, Niklas; Kohne, E.

doi:10.1034/j.1399-0004.1999.550616.x

Cited by 22 publications

(23 citation statements)

References 31 publications

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“…Three subjects also with mental retardation (MR) were found to be hemizygous for several marker loci 8. One of these patients with microdeletions was recently reported9 and we present here the second of the three patients. The clinical features of this patient are described as well as the precise mapping of the deletion breakpoints using FISH to extended DNA fibres.…”

mentioning

confidence: 68%

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Tentler

Gustavsson²,

Elinder³

et al. 2000

Journal of Medical Genetics

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Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2 and subsequently cloned. Analysis of 19q marker alleles in DNA of sporadic DBA cases showed de novo microdeletions in three patients also presenting with mental retardation. We have studied one of these patients and characterised the deletion by fluorescence in situ hybridisation (FISH) to extended DNA fibres. The deletion was shown to be continuous over a 3.2 Mb region and the fibre-FISH analysis showed both chromosomal breakpoints. In combination, the clinical and molecular findings suggest a contiguous gene syndrome with a gene locus for mental retardation and, probably, skeletal malformations included in the deletion. (J Med Genet 2000;37:128-131)

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mentioning

confidence: 68%

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Tentler

Gustavsson²,

Elinder³

et al. 2000

Journal of Medical Genetics

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“…Early descriptions of microdeletions involving 19q13 mostly involved patients with Blackfan-Diamond syndrome, which is due to a deletion of RPS19 in 19q13.2 [Gustavsson et al, 1997a[Gustavsson et al, ,b, 1998Cario et al, 1999;Draptchinskaia et al, 1999;Tentler et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Chowdhury

Bandholz

Parkash

et al. 2013

American J of Med Genetics Pt A

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A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 324-kb critical region was previously identified as the smallest region of overlap (SRO) for this syndrome. To further characterize this microdeletion syndrome, we present five patients with deletions within 19q12q13.12 identified using a whole-genome oligonucleotide microarray. Patients 1 and 2 possess deletions overlapping the SRO, and Patients 3-5 have deletions proximal to the SRO. Patients 1 and 2 share significant phenotypic overlap with previously reported cases, providing further definition of the 19q13.11 microdeletion syndrome phenotype, including the first presentation of ectrodactyly in the syndrome. Patients 3-5, whose features include developmental delay, growth retardation, and feeding problems, support the presence of dosage-sensitive genes outside the SRO that may contribute to the abnormal phenotypes observed in this syndrome. Multiple genotype-phenotype correlations outside the SRO are explored, including further validation of the deletion of WTIP as a candidate for male hypospadias observed in this syndrome. We postulate that unique patient-specific deletions within 19q12q13.1 may explain the phenotypic variability observed in this emerging contiguous gene deletion syndrome.

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“…Microdeletions in 19q13.2 have been associated with mental retardation, skeletal malformations, and DiamondBlackfan anaemia. [128][129][130] This suggests a contiguous gene syndrome which includes the ribosomal protein S19 that is mutated in Diamond-Blackfan anaemia.…”

Section: Qmentioning

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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A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Cited by 22 publications

References 31 publications

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Telomeres: a diagnosis at the end of the chromosomes

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