Document Detail


Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.
MedLine Citation:
PMID:  6837629     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
T R Chase; S M Jalal; J T Martsolf; W A Wasdahl
Related Documents :
20845249 - [vegf antibodies as therapy for retinopathy of prematurity].
20385939 - Longitudinal postnatal weight measurements for the prediction of retinopathy of prematu...
20187739 - Incidence of use of acid suppression medications in infants with oral clefting.
10081569 - 3-dimensional analysis of cleft palate casts.
18317349 - Subretinal hemorrhage after lens-sparing vitrectomy in infants born at or under 24 week...
2590539 - Monoclonal b-cells in blood in non-hodgkin lymphoma. correlation with clinical features...
3721799 - Assessment of acuity of amblyopic subjects using face, grating, and recognition stimuli.
24022649 - Talking to children matters: early language experience strengthens processing and build...
6418909 - E-rosette formation, total t-cells, and lymphocyte transformation in infants receiving ...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, 6-12 and X*
Female
Growth Disorders / genetics
Humans
Infant, Newborn
Karyotyping
Lymphocytes / ultrastructure
Male
Mental Retardation / genetics*
Syndrome
Translocation, Genetic*

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


Previous Document:  Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dys...
Next Document:  Prenatal diagnosis of perinatally lethal osteogenesis imperfecta.