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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Wentzel, Christian (author)
Uppsala universitet,Medicinsk genetik,Annerén
Rajcan-Separovic, Evica (author)
Ruivenkamp, Claudia A. L. (author)
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Chantot-Bastaraud, Sandra (author)
Metay, Corinne (author)
Andrieux, Joris (author)
Annerén, Göran (author)
Uppsala universitet,Medicinsk genetik,Annerén
Gijsbers, Antoinet C. J. (author)
Druart, Luc (author)
Hyon, Capucine (author)
Portnoi, Marie-France (author)
Stattin, Eva-Lena (author)
Umeå universitet,Medicinsk och klinisk genetik
Vincent-Delorme, Catherine (author)
Kant, Sarina G. (author)
Steinraths, Michelle (author)
Marlin, Sandrine (author)
Giurgea, Irina (author)
Thuresson, Ann-Charlotte (author)
Uppsala universitet,Medicinsk genetik,Annerén
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 (creator_code:org_t)
2011-04-27
2011
English.
In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 19:9, s. 959-964
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)

Keyword

10p deletion
developmental delay
dysmorphic features
learning disability
mental retardation
WAC
MEDICINE
MEDICIN

Publication and Content Type

ref (subject category)
art (subject category)

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