Document Detail


Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
MedLine Citation:
PMID:  12116209     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS.
Authors:
Massimiliano Rossi; Pasqua Di Micco; Lucia Perone; Daniele De Brasi; Vito Guzzetta; Maria Vittoria Andreucci; Giovanna Roberta Vega; Maria Grazia Marzano; Emilia Iaccarino; Generoso Andria
Related Documents :
18074389 - Diagnosis of a terminal deletion of 4p with duplication of xp22.31 in a patient with fi...
19774839 - Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.
10864729 - Multiple odontogenic keratocysts in mental retardation-overgrowth (simpson-golabi-behme...
18388779 - De barsy syndrome: a review of the phenotype.
561929 - Goldenhar's syndrome, oculo-auricular malformation, in a bantu girl.
24365679 - Mental illness, violence and delusional misidentifications: the role of capgras' syndro...
20925169 - Acute compartment syndrome of the dorsal forearm following noncontact injury.
1843129 - Oculo-cerebro-renal syndrome (lowe's syndrome).
17603419 - Metabolic syndrome and combat post-traumatic stress disorder intensity: preliminary fin...
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  110     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-07-12     Completed Date:  2002-10-25     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  353-8     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Federico II University, Naples, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Child, Preschool
Chromosomes, Human, Pair 3 / genetics*
Chromosomes, Human, Pair 5 / genetics*
Diagnosis, Differential
Fatal Outcome
Humans
Infant
Karyotyping
Male
Mental Retardation / pathology
Smith-Lemli-Opitz Syndrome / genetics,  pathology
Translocation, Genetic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an...
Next Document:  Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of...