Literature DB >> 3585947

A case of de novo interstitial deletion 3q.

N Okada, T Hasegawa, M Osawa, Y Fukuyama.   

Abstract

A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.

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Mesh：

Year:  1987        PMID： 3585947      PMCID： PMC1050058          DOI： 10.1136/jmg.24.5.305

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Interstitial deletion of the long arm of chromosome 3.

Authors:  J T Martsolf; M Ray
Journal:  Ann Genet       Date:  1983

2.  Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

Authors:  P Franceschini; M Cirillo Silengo; G Davi; R Bianco; M Biagioli
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981
  3 in total
  6 in total

1.  Growth-associated protein-43 is required for commissural axon guidance in the developing vertebrate nervous system.

Authors:  Yiping Shen; Shyamala Mani; Stacy L Donovan; James E Schwob; Karina F Meiri
Journal:  J Neurosci       Date:  2002-01-01       Impact factor: 6.167

2.  The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

Authors:  Anna Materna-Kiryluk; Krzysztof Kiryluk; Katelyn E Burgess; Arkadiusz Bieleninik; Simone Sanna-Cherchi; Ali G Gharavi; Anna Latos-Bielenska
Journal:  Pediatr Nephrol       Date:  2013-11-30       Impact factor: 3.714

3.  Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Authors:  Andrey Shuvarikov; Ian M Campbell; Piotr Dittwald; Nicholas J Neill; Martin G Bialer; Christine Moore; Patricia G Wheeler; Stephanie E Wallace; Mark C Hannibal; Michael F Murray; Monica A Giovanni; Deborah Terespolsky; Sandi Sodhi; Matteo Cassina; David Viskochil; Billur Moghaddam; Kristin Herman; Chester W Brown; Christine R Beck; Anna Gambin; Sau Wai Cheung; Ankita Patel; Allen N Lamb; Lisa G Shaffer; Jay W Ellison; J Britt Ravnan; Paweł Stankiewicz; Jill A Rosenfeld
Journal:  Hum Mutat       Date:  2013-08-13       Impact factor: 4.878

4.  Chromosome 3q29 deletion with gastrointestinal malformation: a case report.

Authors:  Ma'in Masarweh
Journal:  J Med Case Rep       Date:  2011-07-05

5.  A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Authors:  Anna-Maja Molin; J Andrieux; D A Koolen; V Malan; M Carella; L Colleaux; V Cormier-Daire; A David; N de Leeuw; B Delobel; B Duban-Bedu; R Fischetto; F Flinter; S Kjaergaard; F Kok; A C Krepischi; C Le Caignec; C Mackie Ogilvie; S Maia; M Mathieu-Dramard; A Munnich; O Palumbo; F Papadia; R Pfundt; W Reardon; A Receveur; M Rio; L Ronsbro Darling; C Rosenberg; J Sá; L Vallee; C Vincent-Delorme; L Zelante; M-L Bondeson; G Annerén
Journal:  J Med Genet       Date:  2011-12-17       Impact factor: 6.318

6.  Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

Authors:  Waad Albawardi; Faten Almutairi; Zuhair N Al-Hassnan; Rawan AlMass; Albandary AlBakheet; Osama M Mustafa; Laila AlQuait; Zarghuna M A Shinwari; Salma Wakil; Mustafa A Salih; Majid Al-Fayyadh; Saeed M Hassan; Mansour Aljoufan; Osima Al-Nakhli; Brynn Levy; Balsam AlMaarik; Hana A Al-Hakami; Maysoon Alsagob; Dilek Colak; Namik Kaya
Journal:  Mol Cytogenet       Date:  2018-01-25       Impact factor: 2.009
  6 in total

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