Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

Molecular Cytogenetics

Jayesh Sheth¹  Krati Shah¹  Thomas Liehr²  Frenny Sheth¹ 

[1] FRIGE’s Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380015, India;Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, D-07743, Germany

关键词: FISH;    Unbalanced translocation;    Prader-Willi syndrome;    Deletion;    sSMC;    Structural rearrangement;   

Others  :  1221569
DOI  :  10.1186/s13039-015-0163-2

 received in 2015-05-21, accepted in 2015-07-14,  发布年份 2015

【 摘 要 】

Background

Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity.

Case characteristics

A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique.

Results

Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father.

Discussion

Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.

【 授权许可】

   
2015 Sheth et al.

【 图 表 】

Fig. 1.

【 参考文献 】

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