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Literature DB >> 15372519

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).

Abstract

A female newborn suffering from congenital arhinia with complete airway obstruction is reported. In addition, she had hypertelorism, microphthalmia, high-arched palate, and hypoplasia of the auditory canal and mastoid and facial bones, along with the absence of olfactory bulbs and tracts. She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia.

Entities: Disease

Mesh：

Year: 2004 PMID： 15372519 DOI： 10.1002/ajmg.a.30268

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

8 in total

1. Congenital Arhinia: A Rare Case Report and Review of Literature.

Authors: Uttam Mondal; Rameshwar Prasad
Journal: Indian J Otolaryngol Head Neck Surg Date: 2016-07-08

2. 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

3. Hypogonadotropic hypogonadism presenting with arhinia: a case report.

Authors: Jeanie B Tryggestad; Shibo Li; Steven D Chernausek
Journal: J Med Case Rep Date: 2013-02-22

4. 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

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).

1. Congenital Arhinia: A Rare Case Report and Review of Literature.

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

3. Hypogonadotropic hypogonadism presenting with arhinia: a case report.

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

5. Congenital arhinia: a rare case.

6. Congenital arhinia: A rare case.

7. Prenatal Diagnosis of Arhinia.

8. Congenital partial arhinia: a case report.