Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

Toshiyuki Yamamoto; Yuri Dowa; Hideaki Ueda; Motoyoshi Kawataki; Toshihide Asou; Yuki Sasaki; Naoki Harada; Naomichi Matsumoto; Rumiko Matsuoka; Kenji Kurosawa

doi:10.1002/ajmg.a.32204

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka, Kenji Kurosawa

Obstetrics, Gynecology and Urology

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

A newborn male had an interstitial deletion of 16q21-q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region.

Original language	English
Pages (from-to)	1575-1580
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.32204
Publication status	Published - 2008 Jun 15

Keywords

Chromosome 16
Congenital heart disease
Conotruncal heart defect
Contiguous gene syndrome
Malformation
Microdeletion

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Yamamoto, T., Dowa, Y., Ueda, H., Kawataki, M., Asou, T., Sasaki, Y., Harada, N., Matsumoto, N., Matsuoka, R., & Kurosawa, K. (2008). Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1. American Journal of Medical Genetics, Part A, 146(12), 1575-1580. https://doi.org/10.1002/ajmg.a.32204

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1. / Yamamoto, Toshiyuki; Dowa, Yuri; Ueda, Hideaki; Kawataki, Motoyoshi; Asou, Toshihide; Sasaki, Yuki; Harada, Naoki; Matsumoto, Naomichi; Matsuoka, Rumiko; Kurosawa, Kenji.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 12, 15.06.2008, p. 1575-1580.

Research output: Contribution to journal › Article › peer-review

Yamamoto, T, Dowa, Y, Ueda, H, Kawataki, M, Asou, T, Sasaki, Y, Harada, N, Matsumoto, N, Matsuoka, R & Kurosawa, K 2008, 'Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1', American Journal of Medical Genetics, Part A, vol. 146, no. 12, pp. 1575-1580. https://doi.org/10.1002/ajmg.a.32204

Yamamoto, Toshiyuki ; Dowa, Yuri ; Ueda, Hideaki ; Kawataki, Motoyoshi ; Asou, Toshihide ; Sasaki, Yuki ; Harada, Naoki ; Matsumoto, Naomichi ; Matsuoka, Rumiko ; Kurosawa, Kenji. / Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 12. pp. 1575-1580.

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abstract = "A newborn male had an interstitial deletion of 16q21-q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region.",

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AU - Kawataki, Motoyoshi

AU - Asou, Toshihide

AU - Sasaki, Yuki

AU - Harada, Naoki

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Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

Abstract

Keywords

ASJC Scopus subject areas

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