Document Detail

Monozygotic twins discordant for the Russell-Silver syndrome.
MedLine Citation:
PMID:  8533797     Owner:  NLM     Status:  MEDLINE    
Russell-Silver syndrome (RSS) is a pattern of malformation characterized by intrauterine and postnatal growth retardation, limb asymmetry, triangular face, and hypospadias. We report on a patient, from a triplet pregnancy, who was one of identical male twins discordant for RSS. R.B. was a 710-g male born at 33 weeks of gestation, with hypospadias, chordee, and undescended testes. He had a normal 46,XY karyotype and no renal abnormalities. Female triplet A weighed 1,843 g, and male triplet B weighed 1,920 g. Both had normal physical findings and neonatal period. R.B. was first seen by us at age 6 7/12 years with short stature, triangular and asymmetric face, lower limb length discrepancy, and surgically repaired genital anomalies. Growth hormone testing results were normal. At age 8 7/12 years the brothers appeared physically identical except for size, with a height differential of 114.25 vs. 121.5 cm. Testing to establish biological zygosity was performed using VNTR (variable number tandem repeat) DNA probes YNH24 (D2S44), CMM101 (D14S13), EFD52 (D17S26), TBQ7 (D10S28), and 3'HVR (D16S85), PCR loci MCT118 (D1S80), and HLA-DQ alpha. These data indicate a > 99.99% probability of triplets B and C being monozygotic twins. While most occurrences of RSS are sporadic, familial cases suggesting autosomal dominance have been reported. Three other cases of probable monozygotic twins with RSS have been described. The significance of this confirmation of discordance in determining the cause of RSS is discussed.
W Bailey; B Popovich; K L Jones
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  58     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Aug 
Date Detail:
Created Date:  1996-01-29     Completed Date:  1996-01-29     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  101-5     Citation Subset:  IM    
Department of Pediatrics, Naval Hospital Pensacola, Florida, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*
DNA Fingerprinting
Face / abnormalities
Genitalia / abnormalities
Growth Disorders / genetics*
Infant, Newborn
Limb Deformities, Congenital
Minisatellite Repeats
Twins, Monozygotic*

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

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