نتایج جستجو برای: chromosome duplication

تعداد نتایج: 136802  

2015
GUOWEN SUN ZHIPING TAN LIANGLIANG FAN JIAN WANG YIFENG YANG WEIZHI ZHANG

1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The ...

Journal: :Journal of medical genetics 1989
S Ohdo H Madokoro T Sonoda K Ohba

Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.

Journal: :Journal of medical genetics 2002
J R Vermeesch M Syrrou I Salden F Dhondt G Matthijs J-P Fryns

While several case reports describe partial trisomy 12qter, reports of interstitial 12q duplications are extremely rare. We present here the clinical findings in a female infant with mosaicism for a duplication of chromosome 12q13.3→12q21.2 accompanied by a pericentric inversion (12)(p13.3q21.2). No other cases with an interstitial duplication for this region have been reported. The female infa...

Journal: :Biological psychiatry 2014
Jennifer Gladys Mulle Ann E Pulver John A McGrath Paula S Wolyniec Anne F Dodd David J Cutler Jonathan Sebat Dheeraj Malhotra Gerald Nestadt Donald F Conrad Matthew Hurles Chris P Barnes Masashi Ikeda Nakao Iwata Douglas F Levinson Pablo V Gejman Alan R Sanders Jubao Duan Adele A Mitchell Inga Peter Pamela Sklar Colm T O'Dushlaine Detelina Grozeva Michael C O'Donovan Michael J Owen Christina M Hultman Anna K Kähler Patrick F Sullivan George Kirov Stephen T Warren

BACKGROUND Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this re...

Journal: :Journal of medical genetics 1996
L Telvi A Ion J C Carel I Desguerre M Piraud A M Boutin J Feingold G Ponsot M Fellous K McElreavey

An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11-->p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both si...

Journal: :Gene 2012
Maria Paola Recalcati Melissa Bellini Lorenzo Norsa Lucia Ballarati Rossella Caselli Silvia Russo Lidia Larizza Daniela Giardino

We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of...

2014
EMMANOUIL MANOLAKOS ANNALISA VETRO ANTONIOS GARAS LORETTA THOMAIDIS KONSTANTINOS KEFALAS GEORGE KITSOS MONIKA ZIEGLER THOMAS LIEHR ORSETTA ZUFFARDI IOANNIS PAPOULIDIS

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay...

Journal: :Journal of medical genetics 1995
C M Aalfs J M Hoovers M A Nieste-Otter M M Mannens R C Hennekam N J Leschot

We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial proximal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth ...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
Kristi Clark Lauren Sakowski Karen Sperle Linda Banser Carlisle P Landel Denise A Bessert Robert P Skoff Grace M Hobson

Pelizaeus-Merzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid protein 1 gene (PLP1), which is located on the X chromosome and encodes the most abundant protein of myelin in the central nervous sytem. Approximately 60% of PMD cases result from genomic duplications of a region of the X chromosome that includes the entire PLP1 gene. The duplications ...

Journal: :Archives of neurology 2008
Inge A Meijer Ana A Simoes-Lopes Sandra Laurent Tanya Katz Judith St-Onge Dominique J Verlaan Nicolas Dupré Manon Thibault Johanne Mathurin Jean-Pierre Bouchard Guy A Rouleau

OBJECTIVE To identify the underlying locus and disease-causing mutation for adult-onset autosomal dominant leukodystrophy (ADLD). DESIGN Previously, an adult-onset ADLD locus on chromosome 5q23 was mapped between markers D5S1495 and CTT/CCT15. This region contains 13 known and putative candidate genes. A 2-point linkage analysis confirmed linkage of a large multigenerational French Canadian f...

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