Ring Chromosome 15 results from loss of genetic material from both ends of chromosome 15 and joining of the ends to form ring. Only 50 cases are reported in literature with none from India. We report a case of 17 years old female approached us for short stature and low intelligence. On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots. Timely recognition and hereditary tendency counselling is required
PubMed ID: 27192887A further patient of pure I5q deletion: clinical and molecular cytogenetic findin...
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...
© The Author(s).[Background]: Ring chromosome 15 has been associated in previous studies with differ...
Abstract Background Ring chromosome 15 has been associated in previous studies with different clinic...
Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, café au lait spots...
Ring chromosome 15 is a rare disorder. The mechanism of ring chromosome formation is usually associa...
Abstract Introduction Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported ...
Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, cafe au lait spots...
We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patie...
We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patie...
Abstract Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported...
Abstract Background Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chro...
WOS: 000385210500001PubMed ID: 27192887A further patient of pure 15q deletion: clinical and molecula...
Ring chromosomes originate in the simultaneous occurrence of two breaks at opposite ends of the chro...
PubMed ID: 27192887A further patient of pure I5q deletion: clinical and molecular cytogenetic findin...
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...
© The Author(s).[Background]: Ring chromosome 15 has been associated in previous studies with differ...
Abstract Background Ring chromosome 15 has been associated in previous studies with different clinic...
Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, café au lait spots...
Ring chromosome 15 is a rare disorder. The mechanism of ring chromosome formation is usually associa...
Abstract Introduction Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported ...
Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, cafe au lait spots...
We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patie...
We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patie...
Abstract Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported...
Abstract Background Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chro...
WOS: 000385210500001PubMed ID: 27192887A further patient of pure 15q deletion: clinical and molecula...
Ring chromosomes originate in the simultaneous occurrence of two breaks at opposite ends of the chro...
PubMed ID: 27192887A further patient of pure I5q deletion: clinical and molecular cytogenetic findin...
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...