Dermatoglyphic profile in 22q deletion syndrome
نویسندگان
چکیده
منابع مشابه
Our evolving understanding of 22q.11 deletion syndrome.
to sustain attention was impaired in all of them, regardless of their particular neuropsychiatric diagnosis. Appreciation of this specific impairment in these children is invaluable in planning educational and social management. The paper recommends assessment for ADHD in children with del22q.11, and it would also seem prudent to consider the diagnosis of del22q.11 in children with a compatible...
متن کاملCyclic Vomiting Syndrome in a Baby with 22q 11 Deletion Syndrome
22q 11 deletion syndrome (22q11DS; Online Mendelian inheritance in man #192430) also known as velocardiofacial or DiGeorge syndrome, is a genetic disorder resulting from a hemizygous microdeletion of the long arm of chromosome 22. It has an estimated prevalence of 1 out of 4000 live births and results in a heterogeneous clinical presentation that is irrespective of deletion size and can be asso...
متن کاملImpact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate.
BACKGROUND Patients with 22q deletion syndrome are at increased risk of submucous cleft palate and velopharyngeal insufficiency. The authors' aim is to evaluate speech outcomes following primary Furlow palatoplasty or pharyngeal flap for correction of velopharyngeal insufficiency in submucous cleft palate patients with and without 22q deletion syndrome. METHODS Records of submucous cleft pala...
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A similar pattern of deficits in executive function and neuroanatomical abnormalities is shared between 22q 11.2 deletion syndrome (22q 11DS) and schizophrenia, suggesting that common cerebral alterations may lead to cognitive dysfunction and promote the appearance of psychotic symptoms in 22q 11DS individuals. Specifically, there is increasing evidence for involvement of the cingulate gyrus (C...
متن کاملWilliams Syndrome: The Extraordinary Profile of a Micro-deletion
Williams Syndrome (WS) is a rare genetic disorder caused by variable hemizygous micro-deletions on chromosome 7. Depending on the exact genes deleted WS results in distinct cognitive, behavioral, and physical phenotypic profiles. Our lab characterized various deficits and gifts of WS. Deficits include hypersociability, poor visual-spatial skills, inferior cognitive abilities, and supravalvar ao...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
سال: 2004
ISSN: 1552-4841
DOI: 10.1002/ajmg.b.30034