Download e-book for iPad: Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson

By Roger E. Stevenson

ISBN-10: 0199811792

ISBN-13: 9780199811793

The Atlas of X-Linked highbrow incapacity Syndromes is a finished and up to date precis of the clinically distinct problems brought on by genes at the X chromosome. medical and laboratory facts on a hundred and fifty syndromes are offered in a concise and constant demeanour. each one syndrome is outlined and knowledge is supplied on somatic good points, progress and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and while attainable, the character and localization of the dependable gene. Craniofacial and different somatic findings are commonly illustrated. A differential matrix accompanies every one syndrome description to help the reader in picking different X-linked syndromes with overlapping gains. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal positive factors and supply the positioning or mapping limits and serve as of the in charge genes.

The authors have large event within the medical and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped affliction loci at the X chromosome, and pointed out the genes chargeable for X-linked syndromes.

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Aicardi syndrome in a 47,XXY male neonate with lissencephaly and holoprosencephaly. J Neurol Sci 278:138, 2009. : Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 32:461, 1989. : New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol 23:531, 2008. : Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet 138A:254, 2005. Willis J, Rosman NP: The Aicardi syndrome versus congenital infection: diagnostic considerations.

Armfield Syndrome. Brothers at ages 4 years (A) and 8 years (B) showing macrocephaly, ptosis, hypertelorism, downslanting palpebral fissures, and upfolded earlobes; uncles age 23 years (C) and 62 years (D) showing tall forehead, cupped ears, depressed midface, short philtrum, and patulous lower lip. 24 Laboratory. Low somatomedin C was found in two patients. Comment. Xq28 is the most densely mapped region of the human genome. Fifteen XLID syndromes, exhibiting a broad spectrum of clinical phenotypes, have been mapped there, as have nonsyndromal XLID caused by AFF2 (FRAXE), GDI1, and RAB39B mutations.

Other findings included hypotonia, tapered fingers, excessive arches or low ridge-count fingerprints, genu valgum, and absent reflexes. : Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet 85:249, 1999. : Mutation in the 5’ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 13:176, 2005. : X-linked mental retardation syndrome with characteristic “coarse” facial appearance, brachydactyly, and short stature maps to proximal Xq. Am J Med Genet 85:230, 1999.

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Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson


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