1988
DOI: 10.1002/ajmg.1320290119
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Two patients with ring chromosome 15 syndrome

Abstract: We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), c… Show more

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Cited by 67 publications
(67 citation statements)
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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%
“…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%
“…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%
“…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%