Clinical dysmorphology

Clinical dysmorphology Research Abstract Details 

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Clinical dysmorphology Abstract Text:

Tomoki Kosho,Satoru Sakazume,Hiroshi Kawame,Keiko Wakui,Takahito Wada,Yumi Okoshi,Makoto Mikawa,Tomonobu Hasegawa,Nobuo Matsuura,Norio Niikawa,Naomichi Matsumoto,Yoshimitsu Fukushima,

No causative gene has been found for idiopathic central precocious puberty; and FOXP2, located in 7q31, is the only known gene for speech and language disturbances. We report a girl with central precocious puberty, moderate mental retardation, and severe speech impairment; accompanied by a de-novo balanced translocation between 7q31 and 10p14. Physical mapping through molecular cytogenetic investigations demonstrated the breakpoints of 7q31 and 10p14 within a bacterial artificial chromosome (BAC) clone RP11-124G5 and a cosmid clone derived from a BAC clone RP11-1122C18, respectively. FOXP2 was found to be localized approximately 500 kb distant from the centromeric end of the disrupted BAC RP11-124G5 at the 7q31 breakpoint. Speech impairment in the girl might be derived from dysfunction of FOXP2 by a position effect of the 7q31 translocation breakpoint.

Clinical dysmorphology Publishing Authors By Initials

T Kosho,S Sakazume,H Kawame,K Wakui,T Wada,Y Okoshi,M Mikawa,T Hasegawa,N Matsuura,N Niikawa,N Matsumoto,Y Fukushima,

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Clinical dysmorphology Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical dysmorphology

VOLUME: 17

Page Numbers: 31-4

Journal Abbreviation: Clin. Dysmorphol.

ISSN: 0962-8827

DAY: 29

MONTH: Jan

YEAR: 2008

Clinical dysmorphology Information

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LANGUAGE: eng

NlmUniqueID: 9207893

Clinical dysmorphology Keywords Mesh Terms:

KEYWORDS: Translocation, Genetic

MESH TERMS: genetics

Chemical & Substance for Abstract: Clinical dysmorphology Information

Substance Name: Forkhead Transcription Factors

Registry Number: 0

Grant and Affiliation Information for Clinical dysmorphology

AFFILIATION: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@hsp.md.shinshu-u.ac.jp

Country: England

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MEDLINETA: Clin Dysmorphol

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