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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502
Tzschach, Andreas
Krause‐Plonka, Ines
Menzel, Corinna
Kalscheuer, Vera
Toennies, Holger
Scherthan, Harry
Knoblauch, Andreas
Radke, Michael
Ropers, Hans‐Hilger
Hoeltzenbein, Maria
2006
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Tzschach, Andreas
Krause‐Plonka, Ines
Menzel, Corinna
Kalscheuer, Vera
Toennies, Holger
Scherthan, Harry
Knoblauch, Andreas
Radke, Michael
Ropers, Hans‐Hilger
Hoeltzenbein, Maria
Titel
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
Ist Teil von
American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2006
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
We report a $2{3 \over {12}}$‐year‐old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22–5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low‐set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro‐ and/or retrognathia. © 2006 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.31105
Titel-ID: cdi_proquest_miscellaneous_67678835
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Abnormalities, Multiple - pathology
,
Adult and adolescent clinical studies
,
Biological and medical sciences
,
Child, Preschool
,
chromosome 5
,
Chromosome Banding
,
Chromosome Deletion
,
Chromosomes, Human, Pair 5 - genetics
,
congenital contractural arachnodactyly
,
Developmental Disabilities - pathology
,
dysmorphic features
,
Ear - abnormalities
,
Face - abnormalities
,
Failure to Thrive - pathology
,
Feeding and Eating Disorders of Childhood - pathology
,
Humans
,
In Situ Hybridization, Fluorescence
,
Intellectual deficiency
,
interstitial deletion
,
Karyotyping
,
Male
,
Medical sciences
,
mental retardation
,
molecular cytogenetic investigations
,
Phenotype
,
Psychology. Psychoanalysis. Psychiatry
,
Psychopathology. Psychiatry
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