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Review
. 1988 Jan;29(1):149-54.
doi: 10.1002/ajmg.1320290119.

Two patients with ring chromosome 15 syndrome

M G Butler  1 , A B Fogo, D A Fuchs, F S Collins, V G Dev, J A Phillips 3rd
Affiliations
Review

Two patients with ring chromosome 15 syndrome

M G Butler et al. Am J Med Genet. 1988 Jan.

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%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.

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Figures

Fig. 1
Fig. 1
a, b. Patient 1 at 43 months of age.
Fig. 2
Fig. 2
Patient 2 at 6 years of age.
See this image and copyright information in PMC

References

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