Total: 2 |
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PMID (PMCID) | ||
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29226546 |
MIXED_SAMPLE | |
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. | ||
Szabo A, Czako M, Hadzsiev K, Duga B, Banfai Z, Komlosi K, Melegh B. Am J Med Genet A. 2018;176(2):443-449. |
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We hypothesize that haploinsufficiency of the 15q26 genomic region distal to IGF1R gene might be related to growth disturbance; however, presence of the ring chromosome 15 itself could also be responsible for the growth delay. | ||
4040173 |
MIXED_SAMPLE | |
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. | ||
Wilson GN, Sauder SE, Bush M, Beitins IZ. J Med Genet. 1985;22(3):233-6. |
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A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. |