Two patients with ring chromosome 15 syndrome

Butler, Merlin G.; Fogo, Agnes B.; Fuchs, David A.; Collins, Francis S.; Dev, V.G.; Phillips, John A.; Optiz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320290119

Cited by 67 publications

(67 citation statements)

References 18 publications

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“…I. P atients I (M G 080879) and 3 (SR030883) were previous ly reported (Butler et al" 1988), as w as patient 4 (RB092978) (W ilson et al, 1985). P atients 2 (D B042685) and 5 (AI 120184) have m ore com plex endo crinologie histories, which are sum m arized here.…”

Section: Clinical Observationsmentioning

confidence: 74%

Hemizygosity at the insulin-like growth factor I eceptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome

Peoples

Milatovich²,

Francke

1995

Cytogenet Genome Res

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The ring chromosome 15 syndrome is characterized by mild-to-severe growth failure. We evaluated the status of the insulin-like growth factor I receptor (IGF1R) gene, which had previously been assigned to band 15q26 in several patients with de novo ring 15 chromosomes, to investigate a possible correlation between disruption or loss of the IGF1R gene with the severe growth failure phenotype. The presence or absence of the IGF1R gene on the ring 15 chromosomes of five patients was ascertained by in situ hybridization and gene-dosage (Southern) blotting. The location of the breakpoints was determined by typing polymorphic markers from the distal end of the long arm of chromosome 15 in both the probands and their parents. Deletion mapping determined that all breakpoints were distal to D15S100 and that the IGF1R gene is located between D15S107 and D15S87. Three patients who had suffered severe growth failure in early childhood were hemizygous at the IGF1R locus, while one patient with borderline short stature had two copies of the IGF1R gene. The correlation between IGF1R gene dosage and growth retardation demonstrated here in our ring chromosome 15 patients suggests a possible role for heterozygous IGF1R gene mutations or deletions in other cases of unexplained growth failure.

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Section: Clinical Observationsmentioning

confidence: 74%

Hemizygosity at the insulin-like growth factor I eceptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome

Peoples

Milatovich²,

Francke

1995

Cytogenet Genome Res

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“…The presence of multiple café-au-lait spots is important in the diagnosis of patients with chromosomal rings and has been described in patients with ring chromosome 7, 11, and 15 (10,6,11). Café-au-lait spots were also noted on patients with ring chromosome 12 and their family members in 2 prior case reports, by Hajianpour et al (12) and Zen et al (13).…”

Section: Commentmentioning

confidence: 92%

Ring chromosome 12 and severe oligospermia: a case report

Martin

Wold

Taylor

2008

Fertility and Sterility

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Objective-To describe an unusual presentation of ring chromosome 12, which manifested as severe azoospermia, resulting in male infertility. Design-Case report.Setting-In vitro fertilization center at a tertiary care hospital. Patient(s)-A 27-year-old man diagnosed with unexplained azoospermia and ring chromosome 12 abnormality during a workup for primary infertility. Intervention(s)-In vitro fertilization with preimplantation genetic diagnosis.Main Outcome Measure(s)-To confirm the importance of obtaining karyotypes in individuals with severe oligospermia.Result(s)-Full-term pregnancy after IVF using donor sperm.

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“…99 A minority have cardiac and/or urogenital abnormalities. Depending on the size of the deletion, these patients may be missing one copy of the insulin-like growth factor receptor gene (IGF1R) and some do have features suggestive of Russell-Silver syndrome [100][101] 16p…”

Section: Qmentioning

confidence: 99%