Document Detail

Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.
MedLine Citation:
PMID:  6837629     Owner:  NLM     Status:  MEDLINE    
Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome.
T R Chase; S M Jalal; J T Martsolf; W A Wasdahl
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  14     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1983 Feb 
Date Detail:
Created Date:  1983-05-05     Completed Date:  1983-05-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  347-51     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, 6-12 and X*
Growth Disorders / genetics
Infant, Newborn
Lymphocytes / ultrastructure
Mental Retardation / genetics*
Translocation, Genetic*

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