Document Detail

Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
MedLine Citation:
PMID:  2729355     Owner:  NLM     Status:  MEDLINE    
We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.
J L Gorski; B A Cox; M Kyine; W Uhlmann; T W Glover
Related Documents :
1442895 - Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.
3706405 - Distal deletion of the long arm of chromosome 6: a specific phenotype?
15880425 - Identification of high frequency of y chromosome deletions in patients with sex chromos...
11078565 - Fluorescence in situ hybridization detectable mosaicism for angelman syndrome with bipa...
18713385 - Effects on genome constitution and novel cell wall formation caused by the addition of ...
10841045 - Generation of transgenic mice and germline transmission of a mammalian artificial chrom...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  32     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1989 Mar 
Date Detail:
Created Date:  1989-06-30     Completed Date:  1989-06-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  350-2     Citation Subset:  IM    
Department of Pediatrics, University of Michigan Medical Center, Ann Arbor 48109.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*,  pathology,  physiopathology
Chromosome Aberrations* / pathology,  physiopathology
Chromosome Banding
Chromosome Deletion*
Chromosome Disorders*
Chromosomes, Human, Pair 2*
Facial Muscles / physiopathology
Growth Disorders / genetics,  pathology,  physiopathology
Mental Retardation / genetics
Muscle Hypotonia / genetics*,  pathology
Grant Support

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

Previous Document:  Duplication of distal 22q.
Next Document:  Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenit...