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Your search keyword '"Sakazume S"' showing total 2 results
Start Over Author "Sakazume S" Journal clinical dysmorphology
2 results on '"Sakazume S"'

1. Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Author

Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N, and Fukushima Y

Subjects
Dantrolene therapeutic use, Down Syndrome diagnosis, Down Syndrome drug therapy, Down Syndrome genetics, Humans, Infant, Magnetic Resonance Imaging, Male, Muscle Relaxants, Central therapeutic use, Phenotype, Treatment Outcome, Atrophy complications, Basal Ganglia pathology, Brain Diseases diagnosis, Brain Diseases pathology, Cerebellum pathology, Down Syndrome complications, Down Syndrome pathology
Published
2011
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2. De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.

Author

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

Subjects
Child, Preschool, Chromosomes, Artificial, Bacterial, Female, Forkhead Transcription Factors genetics, Humans, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 7, Intellectual Disability genetics, Speech Disorders genetics, Translocation, Genetic
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.

Published
2008
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