De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

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

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)31-34
Number of pages4
JournalClinical Dysmorphology
Volume17
Issue number1
DOIs
Publication statusPublished - 2008 Jan

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Bacterial Artificial Chromosomes
Intellectual Disability
Clone Cells
Cosmids
Cytogenetics
Genes
Language
Central Precocious Puberty

Keywords

  • Central precocious puberty
  • De-novo balanced translocation
  • FOXP2
  • Position effect
  • Speech impairment

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

Cite this

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. / Kosho, Tomoki; Sakazume, Satoru; Kawame, Hiroshi; Wakui, Keiko; Wada, Takahito; Okoshi, Yumi; Mikawa, Makoto; Hasegawa, Tomonobu; Matsuura, Nobuo; Niikawa, Norio; Matsumoto, Naomichi; Fukushima, Yoshimitsu.

In: Clinical Dysmorphology, Vol. 17, No. 1, 01.2008, p. 31-34.

Research output: Contribution to journalArticle

Kosho, T, Sakazume, S, Kawame, H, Wakui, K, Wada, T, Okoshi, Y, Mikawa, M, Hasegawa, T, Matsuura, N, Niikawa, N, Matsumoto, N & Fukushima, Y 2008, 'De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment', Clinical Dysmorphology, vol. 17, no. 1, pp. 31-34. https://doi.org/10.1097/MCD.0b013e3282f17688
Kosho, Tomoki ; Sakazume, Satoru ; Kawame, Hiroshi ; Wakui, Keiko ; Wada, Takahito ; Okoshi, Yumi ; Mikawa, Makoto ; Hasegawa, Tomonobu ; Matsuura, Nobuo ; Niikawa, Norio ; Matsumoto, Naomichi ; Fukushima, Yoshimitsu. / De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. In: Clinical Dysmorphology. 2008 ; Vol. 17, No. 1. pp. 31-34.
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