American journal of medical genetics. Part A, 2005-01, Vol.132A (3), p.276-277
2005
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Details
- Autor(en) / Beteiligte
- Titel
- Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
- Ist Teil von
- American journal of medical genetics. Part A, 2005-01, Vol.132A (3), p.276-277
- Ort / Verlag
- Hoboken: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recently, Milunsky and Huang [2003], reported an 8p duplication at chromosome 8p22‐8p23.1 in 6 patients with Kabuki syndrome. We studied 20 individuals with Kabuki syndrome and were not able to confirm this finding. Kabuki syndrome remains a clinical diagnosis in the majority of cases. © 2004 Wiley‐Liss, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825eISSN: 1552-4833DOI: 10.1002/ajmg.a.30457Titel-ID: cdi_proquest_miscellaneous_67399754
- Format
- –
- Schlagworte
- 8p duplication, Abnormalities, Multiple - genetics, Abnormalities, Multiple - pathology, Cardiovascular Abnormalities, Child, Chromosome Aberrations, Chromosomes, Human, Pair 8 - genetics, Cleft Palate - pathology, clinical diagnosis, Craniofacial Abnormalities - pathology, cytogenetic study, Developmental Disabilities - pathology, Gene Duplication, Growth Disorders - pathology, Humans, Intellectual Disability - pathology, Kabuki syndrome, Syndrome