| 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 |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
J L Gorski; B A Cox; M Kyine; W Uhlmann; T W Glover |
Related Documents
:
|
12297985 - Genomic rearrangements resulting in plp1 deletion occur by nonhomologous end joining an... 9115965 - Molecular delineation of the commonly deleted segment in mature b-cell lymphoid neoplas... 2876425 - Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. 12826745 - Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with... 12750795 - Mapping qtls for resistance against globodera pallida (stone) pa2/3 in a diploid potato... 2882955 - Genetic mapping of prm-1, igl-1, smst, mtv-6, sod-1, and ets-2 and localization of the ... |
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 |
Affiliation:
|
Department of Pediatrics, University of Michigan Medical Center, Ann Arbor 48109. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
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 Humans Infant Karyotyping Male Mental Retardation / genetics Muscle Hypotonia / genetics*, pathology Phenotype |
| Grant Support | |
ID/Acronym/Agency:
|
K11-HD00788/HD/NICHD NIH HHS |
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...