Document Detail

Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
MedLine Citation:
PMID:  2288463     Owner:  NLM     Status:  MEDLINE    
Apparently the first patient with de novo mosaicism 46,XX,t(13q13q)/46,XX,-13,+r(13) is described. The two cell lines were present at a frequency of 34% and 66%, respectively. The infant survived for about three months. The prominent dysmorphic features were: birth-weight and head circumference below the 3rd centile, encephalocele, multiple skin tags of low set dysplastic ears, coloboma of the left iris, short upward slanting palpebral fissures, and prominent nasal root. An imperforate anus, recto-vaginal fistula, enlarged adrenals, missing/hypoplastic kidneys, and limb anomalies were also present. It is postulated that the ring is a secondary anomaly arising from the 13q13q translocation.
S M Jalal; J A Martin; T R Benjamin; M K Kukolich; J K Townsend-Parcham
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Annales de génétique     Volume:  33     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1990  
Date Detail:
Created Date:  1991-03-28     Completed Date:  1991-03-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  173-5     Citation Subset:  IM    
Cytogenetics Laboratory, Mayo Clinic, Rochester, MN 55905.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 13 / ultrastructure*
Infant, Newborn
Ring Chromosomes*
Translocation, Genetic*

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