A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.


:We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.


Clin Dysmorphol


Clinical dysmorphology


Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB




Has Abstract


2006-07-01 00:00:00














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    abstract::We report a boy who presented with mild facial dysmorphism, pectus excavatum, bilateral brachydactyly and ulnar deviation of both index fingers. Radiological examination of the hands showed abnormal proximal phalanges of the second digits. This case differs from the classical Catel-Manzke syndrome in having isolated h...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Puri RD,Phadke SR

    更新日期:2003-10-01 00:00:00

  • Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

    abstract::Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, b...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Plomp AS,Baraitser M,Slaney SF,Winter RM

    更新日期:2000-01-01 00:00:00

  • Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot.

    abstract::Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricul...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Vergara P,Digilio MC,De Zorzi A,Di Carlo D,Capolino R,Rimini A,Pelegrini M,Calabro R,Marino B

    更新日期:2006-04-01 00:00:00

  • Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

    abstract::We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审


    authors: Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJ

    更新日期:2006-10-01 00:00:00

  • A case of diencephalic syndrome presenting with isolated lipodystrophy.

    abstract::Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...

    journal_title:Clinical dysmorphology

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    authors: McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

    更新日期:2018-10-01 00:00:00

  • New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis.

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Golbert MB,Dewes LO,Philipsen VR,Wachholz RS,Deutschendorf C,Leite JC

    更新日期:2007-04-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Norman AM,Read AP,Clark A,Haslam J,Donnai D

    更新日期:1992-01-01 00:00:00

  • EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Akita S,Kuratomi H,Abe K,Harada N,Mukae N,Niikawa N

    更新日期:1993-01-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Honey EM,van Rensburg M,Knoll DP,Mienie LJ,van de Werke I,Beighton P

    更新日期:2003-04-01 00:00:00

  • Occipital Horn syndrome in a 2-year-old boy.

    abstract::The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: De Paepe A,Loeys B,Devriendt K,Fryns JP

    更新日期:1999-07-01 00:00:00

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    abstract::A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine ...

    journal_title:Clinical dysmorphology

    pub_type: 信件


    authors: Pandya NA,Jani BR

    更新日期:2000-04-01 00:00:00

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    journal_title:Clinical dysmorphology

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    authors: Romeo MG,Nicoletti MC,Saporito A,Cilauro S,Romeo DM,Smilari P

    更新日期:2000-10-01 00:00:00

  • Bowen-Conradi syndrome in non Hutterite infant.

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    journal_title:Clinical dysmorphology

    pub_type: 评论,信件


    authors: Innes AM,Lowry RB

    更新日期:2002-04-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Derbent M,Orün UA,Varan B,Mercan S,Yilmaz Z,Sahin FI,Tokel K

    更新日期:2005-01-01 00:00:00

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    pub_type: 杂志文章,评审


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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Mariannejensen L,Kirchhoff M

    更新日期:2005-10-01 00:00:00

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    pub_type: 杂志文章


    authors: Lemire EG,Stoeber GP,Anselmo M,Lowry RB

    更新日期:2001-04-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Crisponi G,Marras AR,Corrias A,Memo L,Gorinati M,Flora PG

    更新日期:2000-04-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Rafati M,Seyyedaboutorabi E,Brujerdi R,Moossavi S,Ghaffari SR

    更新日期:2012-07-01 00:00:00

  • A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

    abstract::Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Karaer K,Yuksel Z,Ichkou A,Calisir C,Attié-Bitach T

    更新日期:2015-04-01 00:00:00

  • Dysmorphology of Barth syndrome.

    abstract::Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Hastings R,Steward C,Tsai-Goodman B,Newbury-Ecob R

    更新日期:2009-10-01 00:00:00

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Cook JA,Bennett C

    更新日期:1995-01-01 00:00:00

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    abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Datta H,Datta S

    更新日期:2003-01-01 00:00:00

  • Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

    abstract::Overgrowth syndromes with complex vascular anomalies pose a challenge for diagnosis and management. The purpose of this descriptive study is to present a cohort of patients with congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome, a distinct clinical phenotype characterized by a compl...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Alomari AI

    更新日期:2009-01-01 00:00:00

  • Trigonocephaly and Wilson's disease in two siblings.

    abstract::Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper e...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

    更新日期:2005-07-01 00:00:00

  • Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

    abstract::Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Bowdin S,Phelan E,Watson R,McCreery KM,Reardon W

    更新日期:2007-01-01 00:00:00

  • Congenital deficiency of the fibula with ipsilateral iliac horn and absence of the kidney.

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    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Haga N,Lee K,Nakamura K,Okazaki Y,Mamada K,Kurokawa T

    更新日期:1997-04-01 00:00:00

  • Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.

    abstract::The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the g...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Gazdagh GE,Wang C,McGowan R,Tobias ES,Ahmed SF,DDD Study.

    更新日期:2019-07-01 00:00:00

  • Parkes Weber syndrome occurring in a family with capillary malformations.

    abstract::Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndr...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Brunetti-Pierri N,Seidel GF,Levy ML,Reid Sutton V

    更新日期:2007-07-01 00:00:00

  • Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

    abstract::A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identi...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: de Ravel TJ,Berkowitz DE,Wagner JM,Jenkins T

    更新日期:1999-01-01 00:00:00